HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1430824T>G , CM000667.2:g.1430824T>G | GRCh38 |
NC_000005.9:g.1430939T>G , CM000667.1:g.1430939T>G | GRCh37 |
NC_000005.8:g.1483939T>G | NCBI36 |
NG_015885.1:g.19605A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.653+1640A>C MANE Select | ENSP00000270349.9:n.653+1640A>C | |
ENST00000270349.11:c.653+1640A>C | ENSP00000270349.9:n.653+1640A>C | |
NM_001044.4:c.653+1640A>C | NP_001035.1:n.653+1640A>C | |
NM_001044.5:c.653+1640A>C MANE Select | NP_001035.1:n.653+1640A>C |