HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215628900C>T , CM000663.2:g.215628900C>T | GRCh38 |
NC_000001.10:g.215802242C>T , CM000663.1:g.215802242C>T | GRCh37 |
NC_000001.9:g.213868865C>T | NCBI36 |
NG_009497.1:g.799497G>A | |
NG_009497.2:g.799549G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.15433G>A MANE Select | ENSP00000305941.3:p.Val5145Ile | |
ENST00000674083.1:c.15505G>A | ENSP00000501296.1:p.Val5169Ile | |
ENST00000307340.7:c.15433G>A | ENSP00000305941.3:p.Val5145Ile | |
NM_206933.2:c.15433G>A | NP_996816.2:p.Val5145Ile | |
NM_206933.3:c.15433G>A | NP_996816.2:p.Val5145Ile | |
NM_206933.4:c.15433G>A MANE Select | NP_996816.3:p.Val5145Ile |