Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52567115C>T , CM000674.2:g.52567115C>T | GRCh38 |
| NC_000012.11:g.52960899C>T , CM000674.1:g.52960899C>T | GRCh37 |
| NC_000012.10:g.51247166C>T | NCBI36 |
| NG_012321.1:g.11711G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305620.3:c.1444G>A MANE Select | ENSP00000307240.2:p.Asp482Asn | |
| ENST00000305620.2:c.1444G>A | ENSP00000307240.2:p.Asp482Asn | |
| ENST00000546384.1:n.431G>A | ||
| ENST00000549343.5:c.1486G>A | ENSP00000447447.1:p.Asp496Asn | |
| NM_175053.3:c.1444G>A | NP_778223.2:p.Asp482Asn | |
| XM_011537902.1:c.1444G>A | XP_011536204.1:p.Asp482Asn | |
| NM_175053.4:c.1444G>A MANE Select | NP_778223.2:p.Asp482Asn |