HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887122C>G , CM000681.2:g.12887122C>G | GRCh38 |
NC_000019.9:g.12997936C>G , CM000681.1:g.12997936C>G | GRCh37 |
NC_000019.8:g.12858936C>G | NCBI36 |
NG_009292.1:g.963C>G | |
NG_013087.1:g.5082G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.19G>C MANE Select | ENSP00000264834.3:p.Ala7Pro | |
ENST00000264834.4:c.19G>C | ENSP00000264834.3:p.Ala7Pro | |
NM_006563.3:c.19G>C | NP_006554.1:p.Ala7Pro | |
XM_011527642.1:c.-185G>C | XP_011525944.1:n.-185G>C | |
NM_006563.4:c.19G>C | NP_006554.1:p.Ala7Pro | |
XM_011527642.2:c.-185G>C | XP_011525944.1:n.-185G>C | |
NM_006563.5:c.19G>C MANE Select | NP_006554.1:p.Ala7Pro |