HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862848C>G , CM000671.2:g.130862848C>G | GRCh38 |
NC_000009.11:g.133738235C>G , CM000671.1:g.133738235C>G | GRCh37 |
NC_000009.10:g.132728056C>G | NCBI36 |
NG_012034.1:g.153968C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.692C>G | ENSP00000361423.2:p.Thr231Arg | |
ENST00000318560.6:c.635C>G MANE Select | ENSP00000323315.5:p.Thr212Arg | |
ENST00000372348.7:c.692C>G | ENSP00000361423.2:p.Thr231Arg | |
ENST00000318560.5:c.635C>G | ENSP00000323315.5:p.Thr212Arg | |
ENST00000372348.6:c.692C>G | ENSP00000361423.2:p.Thr231Arg | |
NM_005157.5:c.635C>G | NP_005148.2:p.Thr212Arg | |
NM_007313.2:c.692C>G | NP_009297.2:p.Thr231Arg | |
NM_005157.6:c.635C>G MANE Select | NP_005148.2:p.Thr212Arg | |
NM_007313.3:c.692C>G | NP_009297.2:p.Thr231Arg |