HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862963G>C , CM000671.2:g.130862963G>C | GRCh38 |
NC_000009.11:g.133738350G>C , CM000671.1:g.133738350G>C | GRCh37 |
NC_000009.10:g.132728171G>C | NCBI36 |
NG_012034.1:g.154083G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.807G>C | ENSP00000361423.2:p.Gly269= | |
ENST00000318560.6:c.750G>C MANE Select | ENSP00000323315.5:p.Gly250= | |
ENST00000372348.7:c.807G>C | ENSP00000361423.2:p.Gly269= | |
ENST00000318560.5:c.750G>C | ENSP00000323315.5:p.Gly250= | |
ENST00000372348.6:c.807G>C | ENSP00000361423.2:p.Gly269= | |
NM_005157.5:c.750G>C | NP_005148.2:p.Gly250= | |
NM_007313.2:c.807G>C | NP_009297.2:p.Gly269= | |
NM_005157.6:c.750G>C MANE Select | NP_005148.2:p.Gly250= | |
NM_007313.3:c.807G>C | NP_009297.2:p.Gly269= |