HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816671G>C , CM000681.2:g.4816671G>C | GRCh38 |
NC_000019.9:g.4816683G>C , CM000681.1:g.4816683G>C | GRCh37 |
NC_000019.8:g.4767683G>C | NCBI36 |
NG_031998.1:g.20072C>G , LRG_358:g.20072C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1707C>G MANE Select | ENSP00000248244.4:p.Ala569= | |
ENST00000248244.5:c.1707C>G | ENSP00000248244.4:p.Ala569= | |
ENST00000621756.1:c.1290C>G | ENSP00000479467.1:p.Ala430= | |
NM_182919.3:c.1707C>G , LRG_358t1:c.1707C>G | NP_891549.1:p.Ala569= | |
NM_001385678.1:c.1665C>G | NP_001372607.1:p.Ala555= | |
NM_001385679.1:c.1572C>G | NP_001372608.1:p.Ala524= | |
NM_001385680.1:c.1065C>G | NP_001372609.1:p.Ala355= | |
NM_182919.4:c.1707C>G MANE Select | NP_891549.1:p.Ala569= |