HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862970T>A , CM000671.2:g.130862970T>A | GRCh38 |
NC_000009.11:g.133738357T>A , CM000671.1:g.133738357T>A | GRCh37 |
NC_000009.10:g.132728178T>A | NCBI36 |
NG_012034.1:g.154090T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.814T>A | ENSP00000361423.2:p.Tyr272Asn | |
ENST00000318560.6:c.757T>A MANE Select | ENSP00000323315.5:p.Tyr253Asn | |
ENST00000372348.7:c.814T>A | ENSP00000361423.2:p.Tyr272Asn | |
ENST00000318560.5:c.757T>A | ENSP00000323315.5:p.Tyr253Asn | |
ENST00000372348.6:c.814T>A | ENSP00000361423.2:p.Tyr272Asn | |
NM_005157.5:c.757T>A | NP_005148.2:p.Tyr253Asn | |
NM_007313.2:c.814T>A | NP_009297.2:p.Tyr272Asn | |
NM_005157.6:c.757T>A MANE Select | NP_005148.2:p.Tyr253Asn | |
NM_007313.3:c.814T>A | NP_009297.2:p.Tyr272Asn |