Linked Data
ClinVar Variation Id:
365293
ClinVar RCV Id:
RCV000262116
dbSNP Id:
rs7857419
gnomAD v2:
9-134398841-C-T
gnomAD v3:
9-131523454-C-T
gnomAD v4:
9-131523454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523454C>T , CM000671.2:g.131523454C>T | GRCh38 |
| NC_000009.11:g.134398841C>T , CM000671.1:g.134398841C>T | GRCh37 |
| NC_000009.10:g.133388662C>T | NCBI36 |
| NG_008896.1:g.25553C>T | |
| NG_008896.2:g.25553C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.*348C>T | ENSP00000343034.7:n.*348C>T | |
| ENST00000404875.7:n.3066C>T | ||
| ENST00000677295.2:c.*2870C>T | ENSP00000504346.2:n.*2870C>T | |
| ENST00000678264.2:c.*2709C>T | ENSP00000503157.2:n.*2709C>T | |
| ENST00000682070.1:n.2836C>T | ||
| ENST00000682639.1:c.240-9C>T | ||
| ENST00000682813.1:n.2923C>T | ||
| ENST00000683231.1:c.376C>T | ||
| ENST00000683392.1:n.5118C>T | ||
| ENST00000683900.1:n.4426C>T | ||
| ENST00000684062.1:n.3192C>T | ||
| ENST00000684399.1:c.341C>T | ||
| ENST00000684579.1:n.4372C>T | ||
| ENST00000341012.12:c.*348C>T | ENSP00000343034.7:n.*348C>T | |
| ENST00000372220.5:c.*348C>T | ENSP00000361294.5:n.*348C>T | |
| ENST00000372228.9:c.*348C>T | ENSP00000361302.3:n.*348C>T | |
| ENST00000402686.8:c.*348C>T MANE Select | ENSP00000385797.4:n.*348C>T | |
| ENST00000676640.1:c.*348C>T | ENSP00000503281.1:n.*348C>T | |
| ENST00000676803.1:c.*348C>T | ENSP00000503093.1:n.*348C>T | |
| ENST00000676835.1:c.*1741C>T | ENSP00000502911.1:n.*1741C>T | |
| ENST00000677099.1:c.*2236C>T | ENSP00000504553.1:n.*2236C>T | |
| ENST00000677295.1:c.*1748C>T | ENSP00000504346.1:n.*1748C>T | |
| ENST00000677444.1:c.2471C>T | ||
| ENST00000677626.1:c.*348C>T | ENSP00000503552.1:n.*348C>T | |
| ENST00000677853.1:c.*1534C>T | ENSP00000503488.1:n.*1534C>T | |
| ENST00000678366.1:c.*2775C>T | ENSP00000504353.1:n.*2775C>T | |
| ENST00000678546.1:c.*2471C>T | ENSP00000503062.1:n.*2471C>T | |
| ENST00000678548.1:c.*2665C>T | ENSP00000503934.1:n.*2665C>T | |
| ENST00000678626.1:n.2362C>T | ||
| ENST00000678739.1:c.*2692C>T | ENSP00000503806.1:n.*2692C>T | |
| ENST00000678833.1:c.*2278C>T | ENSP00000503893.1:n.*2278C>T | |
| ENST00000679023.1:c.*172C>T | ENSP00000503718.1:n.*172C>T | |
| ENST00000679076.1:c.2145C>T | ||
| ENST00000679111.1:c.*1282C>T | ENSP00000504257.1:n.*1282C>T | |
| ENST00000341012.11:c.*348C>T | ENSP00000343034.7:n.*348C>T | |
| ENST00000372220.4:c.1389C>T | ENSP00000361294.4:n.1389C>T | |
| ENST00000372228.7:c.*348C>T | ENSP00000361302.3:n.*348C>T | |
| ENST00000402686.7:c.*348C>T | ENSP00000385797.3:n.*348C>T | |
| ENST00000404875.6:c.*348C>T | ENSP00000384531.2:n.*348C>T | |
| ENST00000423007.5:c.*348C>T | ENSP00000404119.1:n.*348C>T | |
| ENST00000485278.5:n.3076C>T | ||
| NM_001077365.1:c.*348C>T | NP_001070833.1:n.*348C>T | |
| NM_001077366.1:c.*348C>T | NP_001070834.1:n.*348C>T | |
| NM_001136113.1:c.*348C>T | NP_001129585.1:n.*348C>T | |
| NM_001136114.1:c.*348C>T | NP_001129586.1:n.*348C>T | |
| NM_007171.3:c.*348C>T | NP_009102.3:n.*348C>T | |
| XM_005272156.1:c.*348C>T | XP_005272213.1:n.*348C>T | |
| XM_005272158.1:c.*348C>T | XP_005272215.1:n.*348C>T | |
| XM_005272159.1:c.*348C>T | XP_005272216.1:n.*348C>T | |
| XM_005272162.1:c.*348C>T | XP_005272219.1:n.*348C>T | |
| XM_006716932.1:c.*348C>T | XP_006716995.1:n.*348C>T | |
| XM_011518140.1:c.*348C>T | XP_011516442.1:n.*348C>T | |
| XM_011518141.1:c.*348C>T | XP_011516443.1:n.*348C>T | |
| XM_011518142.1:c.*348C>T | XP_011516444.1:n.*348C>T | |
| XM_011518143.1:c.*348C>T | XP_011516445.1:n.*348C>T | |
| XM_011518145.1:c.*348C>T | XP_011516447.1:n.*348C>T | |
| XM_011518147.1:c.*348C>T | XP_011516449.1:n.*348C>T | |
| XR_929703.1:n.2592C>T | ||
| NM_001353193.1:c.*348C>T | NP_001340122.1:n.*348C>T | |
| NM_001353194.1:c.*348C>T | NP_001340123.1:n.*348C>T | |
| NM_001353195.1:c.*348C>T | NP_001340124.1:n.*348C>T | |
| NM_001353196.1:c.*348C>T | NP_001340125.1:n.*348C>T | |
| NM_001353197.1:c.*348C>T | NP_001340126.1:n.*348C>T | |
| NM_001353198.1:c.*348C>T | NP_001340127.1:n.*348C>T | |
| NM_001353199.1:c.*348C>T | NP_001340128.1:n.*348C>T | |
| NM_001353200.1:c.*348C>T | NP_001340129.1:n.*348C>T | |
| NR_148391.1:n.2400C>T | ||
| NR_148392.1:n.2618C>T | ||
| NR_148393.1:n.2715C>T | ||
| NR_148394.1:n.2469C>T | ||
| NR_148395.1:n.2867C>T | ||
| NR_148396.1:n.2501C>T | ||
| NR_148397.1:n.2626C>T | ||
| NR_148398.1:n.2581C>T | ||
| NR_148399.1:n.2931C>T | ||
| NR_148400.1:n.2706C>T | ||
| XM_005272162.3:c.*348C>T | XP_005272219.1:n.*348C>T | |
| XM_006716932.2:c.*348C>T | XP_006716995.1:n.*348C>T | |
| XM_011518140.2:c.*348C>T | XP_011516442.1:n.*348C>T | |
| XM_011518141.2:c.*348C>T | XP_011516443.1:n.*348C>T | |
| XM_011518142.2:c.*348C>T | XP_011516444.1:n.*348C>T | |
| XM_011518143.2:c.*348C>T | XP_011516445.1:n.*348C>T | |
| XM_011518145.2:c.*348C>T | XP_011516447.1:n.*348C>T | |
| XM_017014205.2:c.*348C>T | XP_016869694.1:n.*348C>T | |
| XM_024447380.1:c.*348C>T | XP_024303148.1:n.*348C>T | |
| XM_024447381.1:c.*348C>T | XP_024303149.1:n.*348C>T | |
| XM_024447382.1:c.*348C>T | XP_024303150.1:n.*348C>T | |
| XR_001746160.2:n.2520C>T | ||
| XR_001746162.2:n.2901C>T | ||
| XR_001746164.1:n.2618C>T | ||
| XR_001746166.2:n.2737C>T | ||
| NM_001077365.2:c.*348C>T MANE Select | NP_001070833.1:n.*348C>T | |
| NM_001077366.2:c.*348C>T | NP_001070834.1:n.*348C>T | |
| NM_001136113.2:c.*348C>T | NP_001129585.1:n.*348C>T | |
| NM_001136114.2:c.*348C>T | NP_001129586.1:n.*348C>T | |
| NM_001353193.2:c.*348C>T | NP_001340122.2:n.*348C>T | |
| NM_001353194.2:c.*348C>T | NP_001340123.1:n.*348C>T | |
| NM_001353195.2:c.*348C>T | NP_001340124.1:n.*348C>T | |
| NM_001353196.2:c.*348C>T | NP_001340125.1:n.*348C>T | |
| NM_001353197.2:c.*348C>T | NP_001340126.2:n.*348C>T | |
| NM_001353198.2:c.*348C>T | NP_001340127.2:n.*348C>T | |
| NM_001353199.2:c.*348C>T | NP_001340128.2:n.*348C>T | |
| NM_001353200.2:c.*348C>T | NP_001340129.1:n.*348C>T | |
| NM_001374689.1:c.*348C>T | NP_001361618.1:n.*348C>T | |
| NM_001374690.1:c.*348C>T | NP_001361619.1:n.*348C>T | |
| NM_001374691.1:c.*348C>T | NP_001361620.1:n.*348C>T | |
| NM_001374692.1:c.*348C>T | NP_001361621.1:n.*348C>T | |
| NM_001374693.1:c.*348C>T | NP_001361622.1:n.*348C>T | |
| NM_001374695.1:c.*348C>T | NP_001361624.1:n.*348C>T | |
| NM_007171.4:c.*348C>T | NP_009102.4:n.*348C>T | |
| NR_148391.2:n.2384C>T | ||
| NR_148392.2:n.2602C>T | ||
| NR_148393.2:n.2699C>T | ||
| NR_148394.2:n.2453C>T | ||
| NR_148395.2:n.2851C>T | ||
| NR_148396.2:n.2485C>T | ||
| NR_148397.2:n.2610C>T | ||
| NR_148398.2:n.2565C>T | ||
| NR_148399.2:n.2915C>T | ||
| NR_148400.2:n.2690C>T |