Linked Data
dbSNP Id:
rs371474583
ExAC:
4:39274624 A / C
gnomAD v2:
4-39274624-A-C
gnomAD v4:
4-39273004-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39273004A>C , CM000666.2:g.39273004A>C | GRCh38 |
| NC_000004.11:g.39274624A>C , CM000666.1:g.39274624A>C | GRCh37 |
| NC_000004.10:g.38951019A>C | NCBI36 |
| NG_031813.1:g.95601A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3508A>C MANE Select | ENSP00000382717.3:p.Met1170Leu | |
| ENST00000399820.7:c.3508A>C | ENSP00000382717.3:p.Met1170Leu | |
| ENST00000506869.5:c.*3089A>C | ENSP00000424319.1:n.*3089A>C | |
| ENST00000512095.5:n.2506A>C | ||
| ENST00000512534.5:n.73A>C | ||
| NM_025132.3:c.3508A>C | NP_079408.3:p.Met1170Leu | |
| XM_011513724.1:c.3520A>C | XP_011512026.1:p.Met1174Leu | |
| XM_011513725.1:c.3454A>C | XP_011512027.1:p.Met1152Leu | |
| XM_011513726.1:c.3040A>C | XP_011512028.1:p.Met1014Leu | |
| XM_011513727.1:c.3040A>C | XP_011512029.1:p.Met1014Leu | |
| XM_011513728.1:c.3028A>C | XP_011512030.1:p.Met1010Leu | |
| XR_925155.1:n.3584A>C | ||
| NM_001317924.1:c.3028A>C | NP_001304853.1:p.Met1010Leu | |
| XM_011513725.2:c.3454A>C | XP_011512027.1:p.Met1152Leu | |
| XM_011513726.3:c.3040A>C | XP_011512028.1:p.Met1014Leu | |
| XM_017008501.1:c.3028A>C | XP_016863990.1:p.Met1010Leu | |
| XR_001741306.1:n.3584A>C | ||
| XR_001741307.1:n.3572A>C | ||
| XR_001741308.1:n.3584A>C | ||
| XR_001741309.1:n.3572A>C | ||
| XR_001741310.1:n.3572A>C | ||
| XR_001741311.2:n.3421A>C | ||
| NM_025132.4:c.3508A>C MANE Select | NP_079408.3:p.Met1170Leu | |
| NM_001317924.2:c.3028A>C | NP_001304853.1:p.Met1010Leu |