HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755552C>G , CM000679.2:g.43755552C>G | GRCh38 |
NC_000017.10:g.41832920C>G , CM000679.1:g.41832920C>G | GRCh37 |
NC_000017.9:g.39188446C>G | NCBI36 |
NG_008078.2:g.8237G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.432G>C MANE Select | ENSP00000301691.1:p.Val144= | |
ENST00000301691.2:c.432G>C | ENSP00000301691.1:p.Val144= | |
NM_025237.2:c.432G>C | NP_079513.1:p.Val144= | |
NM_025237.3:c.432G>C MANE Select | NP_079513.1:p.Val144= |