gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99581903A>G , CM000666.2:g.99581903A>G | GRCh38 |
| NC_000004.11:g.100503060A>G , CM000666.1:g.100503060A>G | GRCh37 |
| NC_000004.10:g.100722083A>G | NCBI36 |
| NG_011469.1:g.22821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.62-2A>G MANE Select | ENSP00000265517.5:n.62-2A>G | |
| ENST00000457717.6:c.62-2A>G | ENSP00000400821.1:n.62-2A>G | |
| ENST00000505094.6:c.-188-2A>G | ENSP00000422782.2:n.-188-2A>G | |
| ENST00000511045.6:c.-188-2A>G | ENSP00000427679.2:n.-188-2A>G | |
| ENST00000511610.6:c.62-2A>G | ENSP00000422178.2:n.62-2A>G | |
| ENST00000265517.9:c.62-2A>G | ENSP00000265517.5:n.62-2A>G | |
| ENST00000422897.6:c.62-2A>G | ENSP00000407350.2:n.62-2A>G | |
| ENST00000457717.5:c.62-2A>G | ENSP00000400821.1:n.62-2A>G | |
| ENST00000505094.5:c.*152-2A>G | ENSP00000422782.1:n.*152-2A>G | |
| ENST00000505142.5:c.*252-2A>G | ENSP00000425987.1:n.*252-2A>G | |
| ENST00000506883.5:c.92-2A>G | ENSP00000426755.1:n.92-2A>G | |
| ENST00000511045.5:c.143-2A>G | ENSP00000427679.1:n.143-2A>G | |
| ENST00000511610.5:c.*252-2A>G | ENSP00000422178.1:n.*252-2A>G | |
| ENST00000513404.5:c.*125-2A>G | ENSP00000424972.1:n.*125-2A>G | |
| ENST00000515141.5:c.*125-2A>G | ENSP00000425642.1:n.*125-2A>G | |
| ENST00000619629.1:c.62-2A>G | ENSP00000482850.1:n.62-2A>G | |
| NM_000253.3:c.62-2A>G | NP_000244.2:n.62-2A>G | |
| NM_001300785.1:c.143-2A>G | NP_001287714.1:n.143-2A>G | |
| NM_000253.4:c.62-2A>G | NP_000244.2:n.62-2A>G | |
| NM_001300785.2:c.-188-2A>G | NP_001287714.2:n.-188-2A>G | |
| NM_001386140.1:c.62-2A>G MANE Select | NP_001373069.1:n.62-2A>G |