Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133935773C>T , CM000665.2:g.133935773C>T | GRCh38 |
| NC_000003.11:g.133654617C>T , CM000665.1:g.133654617C>T | GRCh37 |
| NC_000003.10:g.135137307C>T | NCBI36 |
| NG_031964.2:g.121412G>A | |
| NG_031964.3:g.121412G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005630.3:c.1814+1G>A MANE Select | NP_005621.2:n.1814+1G>A |
| ENST00000310926.11:c.1814+1G>A MANE Select | ENSP00000311291.4:n.1814+1G>A |
| NM_005630.2:c.1814+1G>A | NP_005621.2:n.1814+1G>A |
| ENST00000310926.8:c.1814+1G>A | ENSP00000311291.4:n.1814+1G>A |
| ENST00000481359.3:c.*376+1G>A | ENSP00000420028.3:n.*376+1G>A |
| ENST00000493729.5:c.1586+1G>A | ENSP00000418893.1:n.1586+1G>A |
| XM_017007077.1:c.1310+1G>A | XP_016862566.1:n.1310+1G>A |