HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577850C>G , CM000671.2:g.98577850C>G | GRCh38 |
NC_000009.11:g.101340132C>G , CM000671.1:g.101340132C>G | GRCh37 |
NC_000009.10:g.100379953C>G | NCBI36 |
NG_016426.1:g.136348G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.459+85G>C MANE Select | ENSP00000259455.2:n.459+85G>C | |
ENST00000637410.1:n.237+85G>C | ||
ENST00000637717.1:c.75+85G>C | ENSP00000490789.1:n.75+85G>C | |
ENST00000259455.3:c.459+85G>C | ENSP00000259455.2:n.459+85G>C | |
ENST00000634227.1:n.233+85G>C | ||
NM_005458.7:c.459+85G>C | NP_005449.5:n.459+85G>C | |
NM_005458.8:c.459+85G>C MANE Select | NP_005449.5:n.459+85G>C |