HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014116G>C , CM000663.2:g.1014116G>C | GRCh38 |
NC_000001.10:g.949496G>C , CM000663.1:g.949496G>C | GRCh37 |
NC_000001.9:g.939359G>C | NCBI36 |
NG_033033.1:g.5650G>C | |
NG_033033.2:g.17979G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.112G>C | ENSP00000485643.1:p.Ala38Pro | |
ENST00000649529.1:c.136G>C MANE Select | ENSP00000496832.1:p.Ala46Pro | |
ENST00000379389.4:c.136G>C | ENSP00000368699.4:p.Ala46Pro | |
ENST00000624652.1:c.112G>C | ENSP00000485313.1:p.Ala38Pro | |
ENST00000624697.3:c.112G>C | ENSP00000485643.1:p.Ala38Pro | |
NM_005101.3:c.136G>C | NP_005092.1:p.Ala46Pro | |
NM_005101.4:c.136G>C MANE Select | NP_005092.1:p.Ala46Pro |