HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421833G>A , CM000671.2:g.101421833G>A | GRCh38 |
NC_000009.11:g.104184115G>A , CM000671.1:g.104184115G>A | GRCh37 |
NC_000009.10:g.103223936G>A | NCBI36 |
NG_012387.1:g.18948C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.1071C>T MANE Select | ENSP00000497767.1:p.Leu357= | |
ENST00000648064.1:c.1071C>T | ENSP00000497990.1:p.Leu357= | |
ENST00000648758.1:c.1071C>T | ENSP00000497731.1:p.Leu357= | |
ENST00000374855.8:c.1071C>T | ENSP00000363988.4:p.Leu357= | |
ENST00000616752.1:c.*83C>T | ENSP00000481363.1:n.*83C>T | |
NM_000035.3:c.1071C>T | NP_000026.2:p.Leu357= | |
NM_000035.4:c.1071C>T MANE Select | NP_000026.2:p.Leu357= |