Linked Data
dbSNP Id:
rs547434560
ExAC:
7:128588660 A / C
gnomAD v2:
7-128588660-A-C
gnomAD v3:
7-128948606-A-C
gnomAD v4:
7-128948606-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128948606A>C , CM000669.2:g.128948606A>C | GRCh38 |
| NC_000007.13:g.128588660A>C , CM000669.1:g.128588660A>C | GRCh37 |
| NC_000007.12:g.128375896A>C | NCBI36 |
| NG_012306.1:g.15667A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700148.1:n.1569A>C | ||
| ENST00000700151.1:n.3835A>C | ||
| ENST00000700152.1:n.3375A>C | ||
| ENST00000700153.1:n.2749A>C | ||
| ENST00000700154.1:n.913A>C | ||
| ENST00000357234.10:c.1333A>C MANE Select | ENSP00000349770.5:p.Met445Leu | |
| ENST00000489702.6:c.1333A>C | ENSP00000418037.2:p.Met445Leu | |
| ENST00000249375.8:c.1285A>C | ENSP00000249375.4:p.Met429Leu | |
| ENST00000357234.9:c.1333A>C | ENSP00000349770.5:p.Met445Leu | |
| ENST00000402030.6:c.1285A>C | ENSP00000385352.2:p.Met429Leu | |
| ENST00000465603.5:c.*813A>C | ENSP00000418534.1:n.*813A>C | |
| ENST00000473745.5:c.1285A>C | ENSP00000419149.1:p.Met429Leu | |
| ENST00000477535.5:c.1027A>C | ENSP00000419950.1:p.Met343Leu | |
| ENST00000619830.1:c.*783A>C | ENSP00000483292.1:n.*783A>C | |
| NM_001098627.3:c.1285A>C | NP_001092097.2:p.Met429Leu | |
| NM_001098629.2:c.1333A>C | NP_001092099.1:p.Met445Leu | |
| NM_001098630.2:c.1285A>C | NP_001092100.1:p.Met429Leu | |
| NM_001242452.2:c.1027A>C | NP_001229381.1:p.Met343Leu | |
| NM_032643.4:c.1285A>C | NP_116032.1:p.Met429Leu | |
| XM_005250317.2:c.1333A>C | XP_005250374.1:p.Met445Leu | |
| XM_006715974.2:c.1333A>C | XP_006716037.1:p.Met445Leu | |
| XM_011516158.1:c.1333A>C | XP_011514460.1:p.Met445Leu | |
| XM_011516159.1:c.1333A>C | XP_011514461.1:p.Met445Leu | |
| XM_011516160.1:c.1333A>C | XP_011514462.1:p.Met445Leu | |
| XM_011516161.1:c.1303A>C | XP_011514463.1:p.Met435Leu | |
| XM_011516162.1:c.1255A>C | XP_011514464.1:p.Met419Leu | |
| XM_011516163.1:c.1255A>C | XP_011514465.1:p.Met419Leu | |
| XM_011516164.1:c.1255A>C | XP_011514466.1:p.Met419Leu | |
| NM_001347928.1:c.1333A>C | NP_001334857.1:p.Met445Leu | |
| NM_001364314.1:c.1333A>C | NP_001351243.1:p.Met445Leu | |
| XM_011516158.3:c.1333A>C | XP_011514460.1:p.Met445Leu | |
| XM_011516159.3:c.1333A>C | XP_011514461.1:p.Met445Leu | |
| NM_001098629.3:c.1333A>C MANE Select | NP_001092099.1:p.Met445Leu | |
| NM_001098630.3:c.1285A>C | NP_001092100.1:p.Met429Leu | |
| NM_001242452.3:c.1027A>C | NP_001229381.1:p.Met343Leu | |
| NM_001347928.2:c.1333A>C | NP_001334857.1:p.Met445Leu | |
| NM_001364314.2:c.1333A>C | NP_001351243.1:p.Met445Leu | |
| NM_001098627.4:c.1285A>C | NP_001092097.2:p.Met429Leu | |
| NM_032643.5:c.1285A>C | NP_116032.1:p.Met429Leu |