HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862957G>T , CM000671.2:g.130862957G>T | GRCh38 |
NC_000009.11:g.133738344G>T , CM000671.1:g.133738344G>T | GRCh37 |
NC_000009.10:g.132728165G>T | NCBI36 |
NG_012034.1:g.154077G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.801G>T | ENSP00000361423.2:p.Leu267= | |
ENST00000318560.6:c.744G>T MANE Select | ENSP00000323315.5:p.Leu248= | |
ENST00000372348.7:c.801G>T | ENSP00000361423.2:p.Leu267= | |
ENST00000318560.5:c.744G>T | ENSP00000323315.5:p.Leu248= | |
ENST00000372348.6:c.801G>T | ENSP00000361423.2:p.Leu267= | |
NM_005157.5:c.744G>T | NP_005148.2:p.Leu248= | |
NM_007313.2:c.801G>T | NP_009297.2:p.Leu267= | |
NM_005157.6:c.744G>T MANE Select | NP_005148.2:p.Leu248= | |
NM_007313.3:c.801G>T | NP_009297.2:p.Leu267= |