gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306427G>T , CM000663.2:g.161306427G>T | GRCh38 |
| NC_000001.10:g.161276217G>T , CM000663.1:g.161276217G>T | GRCh37 |
| NC_000001.9:g.159542841G>T | NCBI36 |
| NG_008055.1:g.8546C>A , LRG_256:g.8546C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.405C>A | ENSP00000488104.2:p.Ile135= | |
| ENST00000533357.5:c.486C>A MANE Select | ENSP00000432943.1:p.Ile162= | |
| ENST00000672287.2:c.-103C>A | ENSP00000499818.2:n.-103C>A | |
| ENST00000672602.2:c.486C>A | ENSP00000500814.2:p.Ile162= | |
| ENST00000674861.1:n.549C>A | ||
| ENST00000463290.5:c.486C>A | ENSP00000431538.1:p.Ile162= | |
| ENST00000491222.5:c.-103C>A | ENSP00000431441.1:n.-103C>A | |
| ENST00000526189.2:c.149C>A | ||
| ENST00000533357.4:c.486C>A | ENSP00000432943.1:p.Ile162= | |
| NM_000530.6:c.486C>A , LRG_256t1:c.486C>A | NP_000521.2:p.Ile162= | |
| NM_000530.7:c.486C>A | NP_000521.2:p.Ile162= | |
| NM_001315491.1:c.486C>A | NP_001302420.1:p.Ile162= | |
| XM_017001321.2:c.516C>A | XP_016856810.1:p.Ile172= | |
| NM_000530.8:c.486C>A MANE Select | NP_000521.2:p.Ile162= | |
| NM_001315491.2:c.486C>A | NP_001302420.1:p.Ile162= |