HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202518850T>C , CM000664.2:g.202518850T>C | GRCh38 |
NC_000002.11:g.203383573T>C , CM000664.1:g.203383573T>C | GRCh37 |
NC_000002.10:g.203091818T>C | NCBI36 |
NG_009363.1:g.147524T>C , LRG_712:g.147524T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.650T>C MANE Select | ENSP00000363708.4:p.Val217Ala | |
ENST00000638587.1:c.581T>C | ENSP00000491062.1:p.Val194Ala | |
ENST00000374574.2:c.650T>C | ENSP00000363702.2:p.Val217Ala | |
ENST00000374580.8:c.650T>C | ENSP00000363708.4:p.Val217Ala | |
NM_001204.6:c.650T>C , LRG_712t1:c.650T>C | NP_001195.2:p.Val217Ala | |
XM_011511687.1:c.650T>C | XP_011509989.1:p.Val217Ala | |
XM_011511688.1:c.650T>C | XP_011509990.1:p.Val217Ala | |
NM_001204.7:c.650T>C MANE Select | NP_001195.2:p.Val217Ala |