HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424816A>G , CM000671.2:g.101424816A>G | GRCh38 |
NC_000009.11:g.104187098A>G , CM000671.1:g.104187098A>G | GRCh37 |
NC_000009.10:g.103226919A>G | NCBI36 |
NG_012387.1:g.15965T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.999+27T>C MANE Select | ENSP00000497767.1:n.999+27T>C | |
ENST00000648064.1:c.999+27T>C | ENSP00000497990.1:n.999+27T>C | |
ENST00000648758.1:c.999+27T>C | ENSP00000497731.1:n.999+27T>C | |
ENST00000649902.1:c.1026T>C | ENSP00000497216.1:p.Thr342= | |
ENST00000374855.8:c.999+27T>C | ENSP00000363988.4:n.999+27T>C | |
ENST00000616752.1:c.*11+27T>C | ENSP00000481363.1:n.*11+27T>C | |
NM_000035.3:c.999+27T>C | NP_000026.2:n.999+27T>C | |
NM_000035.4:c.999+27T>C MANE Select | NP_000026.2:n.999+27T>C |