Linked Data
ClinVar Variation Id:
2925951
ClinVar RCV Id:
RCV003784045
dbSNP Id:
rs144385159
gnomAD v2:
9-134393912-C-T
gnomAD v4:
9-131518525-C-T
COSMIC:
COSM752501
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518525C>T , CM000671.2:g.131518525C>T | GRCh38 |
| NC_000009.11:g.134393912C>T , CM000671.1:g.134393912C>T | GRCh37 |
| NC_000009.10:g.133383733C>T | NCBI36 |
| NG_008896.1:g.20624C>T | |
| NG_008896.2:g.20624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1191C>T | ENSP00000343034.7:p.Ser397= | |
| ENST00000404875.7:n.1893C>T | ||
| ENST00000423007.6:c.1410C>T | ENSP00000404119.2:p.Ser470= | |
| ENST00000677295.2:c.*1697C>T | ENSP00000504346.2:n.*1697C>T | |
| ENST00000678264.2:c.*1536C>T | ENSP00000503157.2:n.*1536C>T | |
| ENST00000682070.1:n.1818C>T | ||
| ENST00000682535.1:n.125C>T | ||
| ENST00000682539.1:c.291C>T | ||
| ENST00000682813.1:n.1618C>T | ||
| ENST00000683110.1:n.81C>T | ||
| ENST00000683392.1:n.4100C>T | ||
| ENST00000683712.1:n.1758C>T | ||
| ENST00000683900.1:n.3253C>T | ||
| ENST00000684062.1:n.2019C>T | ||
| ENST00000684579.1:n.3199C>T | ||
| ENST00000684679.1:n.580C>T | ||
| ENST00000341012.12:c.1191C>T | ENSP00000343034.7:p.Ser397= | |
| ENST00000372220.5:c.222C>T | ENSP00000361294.5:p.Ser74= | |
| ENST00000372228.9:c.1419C>T | ENSP00000361302.3:p.Ser473= | |
| ENST00000402686.8:c.1353C>T MANE Select | ENSP00000385797.4:p.Ser451= | |
| ENST00000676640.1:c.1353C>T | ENSP00000503281.1:p.Ser451= | |
| ENST00000676803.1:c.528C>T | ENSP00000503093.1:p.Ser176= | |
| ENST00000676835.1:c.*568C>T | ENSP00000502911.1:n.*568C>T | |
| ENST00000677029.1:c.897C>T | ENSP00000502936.1:p.Ser299= | |
| ENST00000677099.1:c.*1063C>T | ENSP00000504553.1:n.*1063C>T | |
| ENST00000677216.1:c.1002C>T | ENSP00000503772.1:p.Ser334= | |
| ENST00000677221.1:n.378C>T | ||
| ENST00000677295.1:c.*730C>T | ENSP00000504346.1:n.*730C>T | |
| ENST00000677444.1:c.1159C>T | ||
| ENST00000677586.1:n.834C>T | ||
| ENST00000677626.1:c.1002C>T | ENSP00000503552.1:p.Ser334= | |
| ENST00000677677.1:n.1313C>T | ||
| ENST00000677853.1:c.*361C>T | ENSP00000503488.1:n.*361C>T | |
| ENST00000677983.1:n.442C>T | ||
| ENST00000678202.1:n.373C>T | ||
| ENST00000678264.1:c.*730C>T | ENSP00000503157.1:n.*730C>T | |
| ENST00000678303.1:c.1263C>T | ENSP00000503696.1:p.Ser421= | |
| ENST00000678366.1:c.*1602C>T | ENSP00000504353.1:n.*1602C>T | |
| ENST00000678546.1:c.*1298C>T | ENSP00000503062.1:n.*1298C>T | |
| ENST00000678548.1:c.*1425C>T | ENSP00000503934.1:n.*1425C>T | |
| ENST00000678626.1:n.1050C>T | ||
| ENST00000678733.1:c.434C>T | ||
| ENST00000678739.1:c.*1679C>T | ENSP00000503806.1:n.*1679C>T | |
| ENST00000678795.1:n.440C>T | ||
| ENST00000678833.1:c.*800C>T | ENSP00000503893.1:n.*800C>T | |
| ENST00000678942.1:c.533C>T | ENSP00000504690.1:n.533C>T | |
| ENST00000679023.1:c.1191C>T | ENSP00000503718.1:p.Ser397= | |
| ENST00000679076.1:c.972C>T | ||
| ENST00000679111.1:c.1353C>T | ENSP00000504257.1:p.Ser451= | |
| ENST00000679189.1:c.1002C>T | ENSP00000503356.1:p.Ser334= | |
| ENST00000341012.11:c.1191C>T | ENSP00000343034.7:p.Ser397= | |
| ENST00000372220.4:c.216C>T | ENSP00000361294.4:p.Ser72= | |
| ENST00000372228.7:c.1419C>T | ENSP00000361302.3:p.Ser473= | |
| ENST00000402686.7:c.1353C>T | ENSP00000385797.3:p.Ser451= | |
| ENST00000404875.6:c.1002C>T | ENSP00000384531.2:p.Ser334= | |
| ENST00000423007.5:c.1353C>T | ENSP00000404119.1:p.Ser451= | |
| ENST00000485278.5:n.1908C>T | ||
| NM_001077365.1:c.1353C>T | NP_001070833.1:p.Ser451= | |
| NM_001077366.1:c.1191C>T | NP_001070834.1:p.Ser397= | |
| NM_001136113.1:c.1353C>T | NP_001129585.1:p.Ser451= | |
| NM_001136114.1:c.1002C>T | NP_001129586.1:p.Ser334= | |
| NM_007171.3:c.1419C>T | NP_009102.3:p.Ser473= | |
| XM_005272156.1:c.1419C>T | XP_005272213.1:p.Ser473= | |
| XM_005272158.1:c.1257C>T | XP_005272215.1:p.Ser419= | |
| XM_005272159.1:c.1068C>T | XP_005272216.1:p.Ser356= | |
| XM_005272162.1:c.222C>T | XP_005272219.1:p.Ser74= | |
| XM_006716932.1:c.1068C>T | XP_006716995.1:p.Ser356= | |
| XM_011518140.1:c.1272C>T | XP_011516442.1:p.Ser424= | |
| XM_011518141.1:c.1206C>T | XP_011516443.1:p.Ser402= | |
| XM_011518142.1:c.1110C>T | XP_011516444.1:p.Ser370= | |
| XM_011518143.1:c.1104C>T | XP_011516445.1:p.Ser368= | |
| XM_011518144.1:c.1419C>T | XP_011516446.1:p.Ser473= | |
| XM_011518145.1:c.963C>T | XP_011516447.1:p.Ser321= | |
| XM_011518146.1:c.1104C>T | XP_011516448.1:p.Ser368= | |
| XM_011518147.1:c.291C>T | XP_011516449.1:p.Ser97= | |
| XR_929703.1:n.1595C>T | ||
| NM_001353193.1:c.1419C>T | NP_001340122.1:p.Ser473= | |
| NM_001353194.1:c.1191C>T | NP_001340123.1:p.Ser397= | |
| NM_001353195.1:c.1002C>T | NP_001340124.1:p.Ser334= | |
| NM_001353196.1:c.1263C>T | NP_001340125.1:p.Ser421= | |
| NM_001353197.1:c.1257C>T | NP_001340126.1:p.Ser419= | |
| NM_001353198.1:c.1257C>T | NP_001340127.1:p.Ser419= | |
| NM_001353199.1:c.1068C>T | NP_001340128.1:p.Ser356= | |
| NM_001353200.1:c.897C>T | NP_001340129.1:p.Ser299= | |
| NR_148391.1:n.1403C>T | ||
| NR_148392.1:n.1621C>T | ||
| NR_148393.1:n.1403C>T | ||
| NR_148394.1:n.1296C>T | ||
| NR_148395.1:n.1555C>T | ||
| NR_148396.1:n.1189C>T | ||
| NR_148397.1:n.1453C>T | ||
| NR_148398.1:n.1408C>T | ||
| NR_148399.1:n.1795C>T | ||
| NR_148400.1:n.1394C>T | ||
| XM_005272162.3:c.222C>T | XP_005272219.1:p.Ser74= | |
| XM_006716932.2:c.1068C>T | XP_006716995.1:p.Ser356= | |
| XM_011518140.2:c.1272C>T | XP_011516442.1:p.Ser424= | |
| XM_011518141.2:c.1206C>T | XP_011516443.1:p.Ser402= | |
| XM_011518142.2:c.1110C>T | XP_011516444.1:p.Ser370= | |
| XM_011518143.2:c.1104C>T | XP_011516445.1:p.Ser368= | |
| XM_011518145.2:c.963C>T | XP_011516447.1:p.Ser321= | |
| XM_017014205.2:c.222C>T | XP_016869694.1:p.Ser74= | |
| XM_024447380.1:c.222C>T | XP_024303148.1:p.Ser74= | |
| XM_024447381.1:c.528C>T | XP_024303149.1:p.Ser176= | |
| XM_024447382.1:c.222C>T | XP_024303150.1:p.Ser74= | |
| XR_001746160.2:n.1523C>T | ||
| XR_001746162.2:n.1589C>T | ||
| XR_001746164.1:n.1306C>T | ||
| XR_001746166.2:n.1740C>T | ||
| NM_001077365.2:c.1353C>T MANE Select | NP_001070833.1:p.Ser451= | |
| NM_001077366.2:c.1191C>T | NP_001070834.1:p.Ser397= | |
| NM_001136113.2:c.1353C>T | NP_001129585.1:p.Ser451= | |
| NM_001136114.2:c.1002C>T | NP_001129586.1:p.Ser334= | |
| NM_001353193.2:c.1419C>T | NP_001340122.2:p.Ser473= | |
| NM_001353194.2:c.1191C>T | NP_001340123.1:p.Ser397= | |
| NM_001353195.2:c.1002C>T | NP_001340124.1:p.Ser334= | |
| NM_001353196.2:c.1263C>T | NP_001340125.1:p.Ser421= | |
| NM_001353197.2:c.1257C>T | NP_001340126.2:p.Ser419= | |
| NM_001353198.2:c.1257C>T | NP_001340127.2:p.Ser419= | |
| NM_001353199.2:c.1068C>T | NP_001340128.2:p.Ser356= | |
| NM_001353200.2:c.897C>T | NP_001340129.1:p.Ser299= | |
| NM_001374689.1:c.1341C>T | NP_001361618.1:p.Ser447= | |
| NM_001374690.1:c.1353C>T | NP_001361619.1:p.Ser451= | |
| NM_001374691.1:c.1002C>T | NP_001361620.1:p.Ser334= | |
| NM_001374692.1:c.1002C>T | NP_001361621.1:p.Ser334= | |
| NM_001374693.1:c.1002C>T | NP_001361622.1:p.Ser334= | |
| NM_001374695.1:c.963C>T | NP_001361624.1:p.Ser321= | |
| NM_007171.4:c.1419C>T | NP_009102.4:p.Ser473= | |
| NR_148391.2:n.1387C>T | ||
| NR_148392.2:n.1605C>T | ||
| NR_148393.2:n.1387C>T | ||
| NR_148394.2:n.1280C>T | ||
| NR_148395.2:n.1539C>T | ||
| NR_148396.2:n.1173C>T | ||
| NR_148397.2:n.1437C>T | ||
| NR_148398.2:n.1392C>T | ||
| NR_148399.2:n.1779C>T | ||
| NR_148400.2:n.1378C>T |