HGVS | Genome Assembly |
---|---|
NC_000001.11:g.246497934C>T , CM000663.2:g.246497934C>T | GRCh38 |
NC_000001.10:g.246661236C>T , CM000663.1:g.246661236C>T | GRCh37 |
NC_000001.9:g.244727859C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490107.6:c.164+9120G>A MANE Select | ENSP00000419184.2:n.164+9120G>A | |
ENST00000403792.7:c.164+9120G>A | ENSP00000385380.3:n.164+9120G>A | |
ENST00000462422.5:n.91+9120G>A | ||
ENST00000470863.1:n.179+9120G>A | ||
ENST00000490107.5:c.164+9120G>A | ENSP00000419184.2:n.164+9120G>A | |
NM_001167740.1:c.164+9120G>A | NP_001161212.1:n.164+9120G>A | |
XM_011544253.1:c.164+9120G>A | XP_011542555.1:n.164+9120G>A | |
XR_949153.1:n.265+9120G>A | ||
NM_001167740.2:c.164+9120G>A MANE Select | NP_001161212.1:n.164+9120G>A | |
NM_001375962.1:c.164+9120G>A | NP_001362891.1:n.164+9120G>A |