HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816256T>C , CM000681.2:g.4816256T>C | GRCh38 |
NC_000019.9:g.4816268T>C , CM000681.1:g.4816268T>C | GRCh37 |
NC_000019.8:g.4767268T>C | NCBI36 |
NG_031998.1:g.20487A>G , LRG_358:g.20487A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2122A>G MANE Select | ENSP00000248244.4:p.Thr708Ala | |
ENST00000248244.5:c.2122A>G | ENSP00000248244.4:p.Thr708Ala | |
ENST00000621756.1:c.1624A>G | ENSP00000479467.1:p.Thr542Ala | |
NM_182919.3:c.2122A>G , LRG_358t1:c.2122A>G | NP_891549.1:p.Thr708Ala | |
NM_001385678.1:c.2080A>G | NP_001372607.1:p.Thr694Ala | |
NM_001385679.1:c.1987A>G | NP_001372608.1:p.Thr663Ala | |
NM_001385680.1:c.1480A>G | NP_001372609.1:p.Thr494Ala | |
NM_182919.4:c.2122A>G MANE Select | NP_891549.1:p.Thr708Ala |