HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199572G>A , CM000671.2:g.137199572G>A | GRCh38 |
NC_000009.11:g.140094024G>A , CM000671.1:g.140094024G>A | GRCh37 |
NC_000009.10:g.139213845G>A | NCBI36 |
NG_027801.1:g.6140C>T | |
NG_027801.2:g.9622C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1140C>T MANE Select | ENSP00000387100.4:p.Ala380= | |
ENST00000333046.8:c.534C>T | ENSP00000327617.4:p.Ala178= | |
ENST00000409012.4:c.1140C>T | ENSP00000387100.4:p.Ala380= | |
ENST00000541945.1:n.90+4532C>T | ||
NM_001128228.2:c.1140C>T | NP_001121700.2:p.Ala380= | |
NM_001128228.3:c.1140C>T MANE Select | NP_001121700.2:p.Ala380= |