HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136432942A>G , CM000671.2:g.136432942A>G | GRCh38 |
NC_000009.11:g.139327394A>G , CM000671.1:g.139327394A>G | GRCh37 |
NC_000009.10:g.138447215A>G | NCBI36 |
NG_016126.1:g.11863T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371712.4:c.1279+14T>C MANE Select | ENSP00000360777.3:n.1279+14T>C | |
ENST00000676019.1:c.1177+14T>C | ENSP00000501984.1:n.1177+14T>C | |
ENST00000371712.3:c.1279+14T>C | ENSP00000360777.3:n.1279+14T>C | |
NM_019892.4:c.1279+14T>C | NP_063945.2:n.1279+14T>C | |
XM_005266094.2:c.1279+14T>C | XP_005266151.1:n.1279+14T>C | |
XR_929828.1:n.1719+14T>C | ||
NM_001318502.1:c.1279+14T>C | NP_001305431.1:n.1279+14T>C | |
NM_019892.5:c.1279+14T>C | NP_063945.2:n.1279+14T>C | |
XM_017014926.1:c.1279+14T>C | XP_016870415.1:n.1279+14T>C | |
XR_929828.2:n.1721+14T>C | ||
NM_019892.6:c.1279+14T>C MANE Select | NP_063945.2:n.1279+14T>C | |
NM_001318502.2:c.1279+14T>C | NP_001305431.1:n.1279+14T>C |