HGVS | Genome Assembly |
---|---|
NC_000007.14:g.32404688C>T , CM000669.2:g.32404688C>T | GRCh38 |
NC_000007.13:g.32444300C>T , CM000669.1:g.32444300C>T | GRCh37 |
NC_000007.12:g.32410825C>T | NCBI36 |
NG_051183.1:g.28537G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000672256.1:c.310+23134G>A | ENSP00000499831.1:n.310+23134G>A | |
NM_001322059.1:c.310+23134G>A | NP_001308988.1:n.310+23134G>A | |
NM_001322059.2:c.310+23134G>A | NP_001308988.1:n.310+23134G>A |