HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364967C>T , CM000675.2:g.48364967C>T | GRCh38 |
NC_000013.10:g.48939103C>T , CM000675.1:g.48939103C>T | GRCh37 |
NC_000013.9:g.47837104C>T | NCBI36 |
NG_009009.1:g.66221C>T , LRG_517:g.66221C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.935C>T MANE Select | ENSP00000267163.4:p.Pro312Leu | |
ENST00000650461.1:c.935C>T | ENSP00000497193.1:p.Pro312Leu | |
ENST00000267163.4:c.935C>T | ENSP00000267163.4:p.Pro312Leu | |
NM_000321.2:c.935C>T , LRG_517t1:c.935C>T | NP_000312.2:p.Pro312Leu | |
XM_011535171.1:c.674C>T | XP_011533473.1:p.Pro225Leu | |
XM_011535171.2:c.674C>T | XP_011533473.1:p.Pro225Leu | |
XR_002957522.1:n.131G>A | ||
NM_000321.3:c.935C>T MANE Select | NP_000312.2:p.Pro312Leu |