gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236021631T>G , CM000663.2:g.236021631T>G | GRCh38 |
| NC_000001.10:g.236184931T>G , CM000663.1:g.236184931T>G | GRCh37 |
| NC_000001.9:g.234251554T>G | NCBI36 |
| NG_033228.1:g.48551A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264187.7:c.2128+2439A>C MANE Select | ENSP00000264187.6:n.2128+2439A>C | |
| ENST00000264187.6:c.2128+2439A>C | ENSP00000264187.6:n.2128+2439A>C | |
| ENST00000366595.7:c.2128+2439A>C | ENSP00000355554.3:n.2128+2439A>C | |
| NM_002508.2:c.2128+2439A>C | NP_002499.2:n.2128+2439A>C | |
| XM_011544195.1:c.2128+2439A>C | XP_011542497.1:n.2128+2439A>C | |
| XM_011544195.3:c.2128+2439A>C | XP_011542497.1:n.2128+2439A>C | |
| NM_002508.3:c.2128+2439A>C MANE Select | NP_002499.2:n.2128+2439A>C |