Linked Data
dbSNP Id:
rs780141687
ExAC:
4:100543951 G / A
gnomAD v2:
4-100543951-G-A
gnomAD v4:
4-99622794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622794G>A , CM000666.2:g.99622794G>A | GRCh38 |
| NC_000004.11:g.100543951G>A , CM000666.1:g.100543951G>A | GRCh37 |
| NC_000004.10:g.100762974G>A | NCBI36 |
| NG_011469.1:g.63712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2631G>A MANE Select | ENSP00000265517.5:p.Met877Ile | |
| ENST00000457717.6:c.2631G>A | ENSP00000400821.1:p.Met877Ile | |
| ENST00000511045.6:c.2382G>A | ENSP00000427679.2:p.Met794Ile | |
| ENST00000265517.9:c.2631G>A | ENSP00000265517.5:p.Met877Ile | |
| ENST00000457717.5:c.2631G>A | ENSP00000400821.1:p.Met877Ile | |
| ENST00000511045.5:c.2712G>A | ENSP00000427679.1:p.Met904Ile | |
| ENST00000619629.1:c.*1078G>A | ENSP00000482850.1:n.*1078G>A | |
| NM_000253.3:c.2631G>A | NP_000244.2:p.Met877Ile | |
| NM_001300785.1:c.2712G>A | NP_001287714.1:p.Met904Ile | |
| NM_000253.4:c.2631G>A | NP_000244.2:p.Met877Ile | |
| NM_001300785.2:c.2382G>A | NP_001287714.2:p.Met794Ile | |
| NM_001386140.1:c.2631G>A MANE Select | NP_001373069.1:p.Met877Ile |