HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837613G>A , CM000685.2:g.154837613G>A | GRCh38 |
NC_000023.10:g.154065888G>A , CM000685.1:g.154065888G>A | GRCh37 |
NC_000023.9:g.153719082G>A | NCBI36 |
NG_011403.1:g.190111C>T | |
NG_033065.1:g.2050C>T | |
NG_011403.2:g.190111C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.7040C>T MANE Select | ENSP00000353393.4:p.Ala2347Val | |
ENST00000644698.1:c.773C>T | ENSP00000495706.1:p.Ala258Val | |
ENST00000330287.10:c.635C>T | ENSP00000327895.6:p.Ala212Val | |
ENST00000360256.8:c.7040C>T | ENSP00000353393.4:p.Ala2347Val | |
NM_000132.3:c.7040C>T | NP_000123.1:p.Ala2347Val | |
NM_019863.2:c.635C>T | NP_063916.1:p.Ala212Val | |
XM_011531126.1:c.6935C>T | XP_011529428.1:p.Ala2312Val | |
NM_000132.4:c.7040C>T MANE Select | NP_000123.1:p.Ala2347Val | |
NM_019863.3:c.635C>T | NP_063916.1:p.Ala212Val |