HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731946C>T , CM000685.2:g.8731946C>T | GRCh38 |
NC_000023.10:g.8699987C>T , CM000685.1:g.8699987C>T | GRCh37 |
NC_000023.9:g.8659987C>T | NCBI36 |
NG_007088.1:g.5241G>A | |
NG_007088.2:g.5241G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.91G>A MANE Select | ENSP00000262648.3:p.Ala31Thr | |
ENST00000262648.7:c.91G>A | ENSP00000262648.3:p.Ala31Thr | |
ENST00000619786.1:c.90G>A | ENSP00000478734.1:p.Leu30= | |
NM_000216.2:c.91G>A | NP_000207.2:p.Ala31Thr | |
XM_005274501.3:c.91G>A | XP_005274558.1:p.Ala31Thr | |
NM_000216.3:c.91G>A | NP_000207.2:p.Ala31Thr | |
XM_005274501.4:c.91G>A | XP_005274558.1:p.Ala31Thr | |
NM_000216.4:c.91G>A MANE Select | NP_000207.2:p.Ala31Thr |