gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19765089G>A , CM000684.2:g.19765089G>A | GRCh38 |
| NC_000022.10:g.19752612G>A , CM000684.1:g.19752612G>A | GRCh37 |
| NC_000022.9:g.18132612G>A | NCBI36 |
| NG_009229.1:g.13387G>A , LRG_226:g.13387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.369G>A | ENSP00000514909.1:p.Ala123= | |
| ENST00000649276.2:c.843G>A MANE Select | ENSP00000497003.1:p.Ala281= | |
| ENST00000329705.11:c.816G>A | ENSP00000331176.7:p.Ala272= | |
| ENST00000332710.8:c.816G>A | ENSP00000331791.4:p.Ala272= | |
| ENST00000359500.7:c.816G>A | ENSP00000352483.3:p.Ala272= | |
| ENST00000484336.1:n.11G>A | ||
| ENST00000621939.1:c.816G>A | ENSP00000477982.1:p.Ala272= | |
| NM_005992.1:c.816G>A | NP_005983.1:p.Ala272= | |
| NM_080646.1:c.816G>A | NP_542377.1:p.Ala272= | |
| NM_080647.1:c.816G>A , LRG_226t1:c.816G>A | NP_542378.1:p.Ala272= | |
| XM_006724312.1:c.816G>A | XP_006724375.1:p.Ala272= | |
| XM_011530351.1:c.843G>A | XP_011528653.1:p.Ala281= | |
| XM_006724312.2:c.816G>A | XP_006724375.1:p.Ala272= | |
| XM_017028925.1:c.966G>A | XP_016884414.1:p.Ala322= | |
| XM_017028926.1:c.816G>A | XP_016884415.1:p.Ala272= | |
| XM_017028927.1:c.117G>A | XP_016884416.1:p.Ala39= | |
| XM_017028928.1:c.966G>A | XP_016884417.1:p.Ala322= | |
| NM_001379200.1:c.843G>A MANE Select | NP_001366129.1:p.Ala281= | |
| NM_080646.2:c.816G>A | NP_542377.1:p.Ala272= |