Linked Data
dbSNP Id:
rs760657952
ExAC:
19:41198246 C / G
gnomAD v2:
19-41198246-C-G
gnomAD v4:
19-40692341-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692341C>G , CM000681.2:g.40692341C>G | GRCh38 |
| NC_000019.9:g.41198246C>G , CM000681.1:g.41198246C>G | GRCh37 |
| NC_000019.8:g.45890086C>G | NCBI36 |
| NG_027800.1:g.29545G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1329G>C MANE Select | ENSP00000315118.3:p.Met443Ile | |
| ENST00000593724.2:n.3152G>C | ||
| ENST00000594490.6:c.1251G>C | ENSP00000471310.2:p.Met417Ile | |
| ENST00000594720.6:c.1329G>C | ENSP00000470876.2:p.Met443Ile | |
| ENST00000596455.6:n.1621G>C | ||
| ENST00000601967.6:c.1329G>C | ENSP00000470916.2:p.Met443Ile | |
| ENST00000676555.1:c.*754G>C | ENSP00000503387.1:n.*754G>C | |
| ENST00000676578.1:c.*1071G>C | ENSP00000504076.1:n.*1071G>C | |
| ENST00000676960.1:n.1454G>C | ||
| ENST00000676962.1:n.1608G>C | ||
| ENST00000677018.1:c.1329G>C | ENSP00000503480.1:p.Met443Ile | |
| ENST00000677039.1:n.3532G>C | ||
| ENST00000677399.1:n.1771G>C | ||
| ENST00000677496.1:c.1002G>C | ENSP00000504773.1:p.Met334Ile | |
| ENST00000677517.1:c.1002G>C | ENSP00000503519.1:p.Met334Ile | |
| ENST00000677633.1:c.*752G>C | ENSP00000503645.1:n.*752G>C | |
| ENST00000677800.1:c.*4433G>C | ENSP00000503794.1:n.*4433G>C | |
| ENST00000678057.1:c.*893G>C | ENSP00000503762.1:n.*893G>C | |
| ENST00000678119.1:n.1523G>C | ||
| ENST00000678166.1:n.1472G>C | ||
| ENST00000678312.1:n.1666G>C | ||
| ENST00000678316.1:c.*752G>C | ENSP00000504112.1:n.*752G>C | |
| ENST00000678371.1:n.1779G>C | ||
| ENST00000678404.1:c.1329G>C | ENSP00000503944.1:p.Met443Ile | |
| ENST00000678419.1:c.1329G>C | ENSP00000504085.1:p.Met443Ile | |
| ENST00000678433.1:n.1685G>C | ||
| ENST00000678467.1:c.1329G>C | ENSP00000504072.1:p.Met443Ile | |
| ENST00000678569.1:c.*314G>C | ENSP00000504261.1:n.*314G>C | |
| ENST00000678961.1:n.1684G>C | ||
| ENST00000679002.1:n.1508G>C | ||
| ENST00000679012.1:c.885G>C | ENSP00000504446.1:p.Met295Ile | |
| ENST00000679070.1:c.*748G>C | ENSP00000503759.1:n.*748G>C | |
| ENST00000679130.1:c.1329G>C | ENSP00000504845.1:p.Met443Ile | |
| ENST00000679315.1:c.*1159G>C | ENSP00000503065.1:n.*1159G>C | |
| ENST00000243583.10:c.1206G>C | ENSP00000243583.5:p.Met402Ile | |
| ENST00000324464.7:c.1329G>C | ENSP00000315118.3:p.Met443Ile | |
| ENST00000593724.1:n.1444G>C | ||
| NM_001142555.2:c.1206G>C | NP_001136027.1:p.Met402Ile | |
| NM_024876.3:c.1329G>C | NP_079152.3:p.Met443Ile | |
| XM_005259270.3:c.1491G>C | XP_005259327.2:p.Met497Ile | |
| XM_005259271.3:c.1329G>C | XP_005259328.1:p.Met443Ile | |
| XM_005259272.3:c.1329G>C | XP_005259329.1:p.Met443Ile | |
| XM_005259273.3:c.1329G>C | XP_005259330.1:p.Met443Ile | |
| XM_006723392.2:c.1329G>C | XP_006723455.1:p.Met443Ile | |
| XM_006723393.2:c.1329G>C | XP_006723456.1:p.Met443Ile | |
| XM_011527334.1:c.1329G>C | XP_011525636.1:p.Met443Ile | |
| XM_011527335.1:c.1188G>C | XP_011525637.1:p.Met396Ile | |
| XM_011527336.1:c.1359G>C | XP_011525638.1:p.Met453Ile | |
| XM_011527337.1:c.1329G>C | XP_011525639.1:p.Met443Ile | |
| XM_011527338.1:c.1329G>C | XP_011525640.1:p.Met443Ile | |
| NM_024876.4:c.1329G>C MANE Select | NP_079152.3:p.Met443Ile | |
| NM_001142555.3:c.1206G>C | NP_001136027.1:p.Met402Ile |