HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19956039G>T , CM000670.2:g.19956039G>T | GRCh38 |
NC_000008.10:g.19813550G>T , CM000670.1:g.19813550G>T | GRCh37 |
NC_000008.9:g.19857830G>T | NCBI36 |
NG_008855.1:g.21969G>T | |
NG_008855.2:g.59323G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.974G>T MANE Select | ENSP00000497642.1:p.Ser325Ile | |
ENST00000650478.1:c.35G>T | ENSP00000497560.1:p.Ser12Ile | |
ENST00000311322.8:c.974G>T | ENSP00000309757.6:p.Ser325Ile | |
NM_000237.2:c.974G>T | NP_000228.1:p.Ser325Ile | |
NM_000237.3:c.974G>T MANE Select | NP_000228.1:p.Ser325Ile |