HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17118101T>G , CM000663.2:g.17118101T>G | GRCh38 |
NC_000001.10:g.17444596T>G , CM000663.1:g.17444596T>G | GRCh37 |
NC_000001.9:g.17317183T>G | NCBI36 |
NG_033958.1:g.6353A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375486.9:c.92+1179A>C MANE Select | ENSP00000364635.4:n.92+1179A>C | |
ENST00000375481.1:c.92+1179A>C | ENSP00000364630.1:n.92+1179A>C | |
ENST00000375486.8:c.92+1179A>C | ENSP00000364635.4:n.92+1179A>C | |
NM_007365.2:c.92+1179A>C | NP_031391.2:n.92+1179A>C | |
XM_011540549.1:c.92+1179A>C | XP_011538851.1:n.92+1179A>C | |
XR_947004.1:n.4677T>G | ||
XR_001736944.1:n.174+1179A>C | ||
NM_007365.3:c.92+1179A>C MANE Select | NP_031391.2:n.92+1179A>C |