HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837744C>A , CM000685.2:g.154837744C>A | GRCh38 |
NC_000023.10:g.154066019C>A , CM000685.1:g.154066019C>A | GRCh37 |
NC_000023.9:g.153719213C>A | NCBI36 |
NG_011403.1:g.189980G>T | |
NG_033065.1:g.1919G>T | |
NG_011403.2:g.189980G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6909G>T MANE Select | ENSP00000353393.4:p.Gln2303His | |
ENST00000644698.1:c.642G>T | ENSP00000495706.1:p.Gln214His | |
ENST00000330287.10:c.504G>T | ENSP00000327895.6:p.Gln168His | |
ENST00000360256.8:c.6909G>T | ENSP00000353393.4:p.Gln2303His | |
NM_000132.3:c.6909G>T | NP_000123.1:p.Gln2303His | |
NM_019863.2:c.504G>T | NP_063916.1:p.Gln168His | |
XM_011531126.1:c.6804G>T | XP_011529428.1:p.Gln2268His | |
NM_000132.4:c.6909G>T MANE Select | NP_000123.1:p.Gln2303His | |
NM_019863.3:c.504G>T | NP_063916.1:p.Gln168His |