HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1415949G>A , CM000667.2:g.1415949G>A | GRCh38 |
NC_000005.9:g.1416064G>A , CM000667.1:g.1416064G>A | GRCh37 |
NC_000005.8:g.1469064G>A | NCBI36 |
NG_015885.1:g.34480C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1031+149C>T MANE Select | ENSP00000270349.9:n.1031+149C>T | |
ENST00000270349.11:c.1031+149C>T | ENSP00000270349.9:n.1031+149C>T | |
ENST00000511750.1:n.481+149C>T | ||
NM_001044.4:c.1031+149C>T | NP_001035.1:n.1031+149C>T | |
NM_001044.5:c.1031+149C>T MANE Select | NP_001035.1:n.1031+149C>T |