HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860462C>G , CM000685.2:g.154860462C>G | GRCh38 |
NC_000023.10:g.154088737C>G , CM000685.1:g.154088737C>G | GRCh37 |
NC_000023.9:g.153741931C>G | NCBI36 |
NG_011403.1:g.167262G>C | |
NG_011403.2:g.167262G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6870G>C MANE Select | ENSP00000353393.4:p.Trp2290Cys | |
ENST00000644698.1:c.603G>C | ENSP00000495706.1:p.Trp201Cys | |
ENST00000330287.10:c.465G>C | ENSP00000327895.6:p.Trp155Cys | |
ENST00000360256.8:c.6870G>C | ENSP00000353393.4:p.Trp2290Cys | |
NM_000132.3:c.6870G>C | NP_000123.1:p.Trp2290Cys | |
NM_019863.2:c.465G>C | NP_063916.1:p.Trp155Cys | |
XM_011531126.1:c.6765G>C | XP_011529428.1:p.Trp2255Cys | |
NM_000132.4:c.6870G>C MANE Select | NP_000123.1:p.Trp2290Cys | |
NM_019863.3:c.465G>C | NP_063916.1:p.Trp155Cys |