HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180228C>G , CM000681.2:g.15180228C>G | GRCh38 |
NC_000019.9:g.15291039C>G , CM000681.1:g.15291039C>G | GRCh37 |
NC_000019.8:g.15152039C>G | NCBI36 |
NG_009819.1:g.25754G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263388.7:c.3171G>C MANE Select | ENSP00000263388.1:p.Ala1057= | |
ENST00000263388.6:c.3171G>C | ENSP00000263388.1:p.Ala1057= | |
ENST00000601011.1:c.3012G>C | ENSP00000473138.1:p.Ala1004= | |
NM_000435.2:c.3171G>C | NP_000426.2:p.Ala1057= | |
XM_005259924.3:c.3015G>C | XP_005259981.1:p.Ala1005= | |
XM_005259924.4:c.3015G>C | XP_005259981.1:p.Ala1005= | |
NM_000435.3:c.3171G>C MANE Select | NP_000426.2:p.Ala1057= |