Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875812G>A , CM000664.2:g.240875812G>A | GRCh38 |
| NC_000002.11:g.241815229G>A , CM000664.1:g.241815229G>A | GRCh37 |
| NC_000002.10:g.241463902G>A | NCBI36 |
| NG_008005.1:g.12068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.777-123G>A MANE Select | ENSP00000302620.3:n.777-123G>A | |
| ENST00000307503.3:c.777-123G>A | ENSP00000302620.3:n.777-123G>A | |
| ENST00000476698.1:n.429-123G>A | ||
| NM_000030.2:c.777-123G>A | NP_000021.1:n.777-123G>A | |
| NM_000030.3:c.777-123G>A MANE Select | NP_000021.1:n.777-123G>A |