Linked Data
dbSNP Id:
rs373121994
ExAC:
17:45822115 A / C
gnomAD v2:
17-45822115-A-C
gnomAD v3:
17-47744749-A-C
gnomAD v4:
17-47744749-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744749A>C , CM000679.2:g.47744749A>C | GRCh38 |
| NC_000017.10:g.45822115A>C , CM000679.1:g.45822115A>C | GRCh37 |
| NC_000017.9:g.43177114A>C | NCBI36 |
| NG_012166.1:g.16506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.991A>C MANE Select | ENSP00000177694.1:p.Met331Leu | |
| ENST00000177694.1:c.991A>C | ENSP00000177694.1:p.Met331Leu | |
| NM_013351.1:c.991A>C | NP_037483.1:p.Met331Leu | |
| XM_011524698.1:c.1054A>C | XP_011523000.1:p.Met352Leu | |
| XM_011524699.1:c.658A>C | XP_011523001.1:p.Met220Leu | |
| NM_013351.2:c.991A>C MANE Select | NP_037483.1:p.Met331Leu |