gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00191894 (MID)
Genomes Max Group AF
0.00010174 (NFE)
Exomes Max Group AF
0.0018777 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129288045G>A , CM000668.2:g.129288045G>A | GRCh38 |
| NC_000006.11:g.129609190G>A , CM000668.1:g.129609190G>A | GRCh37 |
| NC_000006.10:g.129650883G>A | NCBI36 |
| NG_008678.1:g.409905G>A , LRG_409:g.409905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.2736G>A | ENSP00000481744.2:p.Ala912= | |
| ENST00000618192.5:c.2736G>A | ENSP00000480802.2:p.Ala912= | |
| ENST00000421865.3:c.2736G>A MANE Select | ENSP00000400365.2:p.Ala912= | |
| ENST00000421865.2:c.2736G>A | ENSP00000400365.2:p.Ala912= | |
| ENST00000617695.4:c.2736G>A | ENSP00000481744.1:p.Ala912= | |
| ENST00000618192.4:c.2736G>A | ENSP00000480802.1:p.Ala912= | |
| NM_000426.3:c.2736G>A , LRG_409t1:c.2736G>A | NP_000417.2:p.Ala912= | |
| NM_001079823.1:c.2736G>A | NP_001073291.1:p.Ala912= | |
| XM_005266981.2:c.2736G>A | XP_005267038.1:p.Ala912= | |
| XM_005266982.2:c.2736G>A | XP_005267039.1:p.Ala912= | |
| XM_011535820.1:c.2736G>A | XP_011534122.1:p.Ala912= | |
| XM_005266981.3:c.2736G>A | XP_005267038.1:p.Ala912= | |
| XM_005266982.3:c.2736G>A | XP_005267039.1:p.Ala912= | |
| XM_011535820.2:c.2736G>A | XP_011534122.1:p.Ala912= | |
| XM_017010851.2:c.2742G>A | XP_016866340.1:p.Ala914= | |
| XM_017010852.1:c.867G>A | XP_016866341.1:p.Ala289= | |
| XM_017010853.1:c.2736G>A | XP_016866342.1:p.Ala912= | |
| NM_000426.4:c.2736G>A MANE Select | NP_000417.3:p.Ala912= | |
| NM_001079823.2:c.2736G>A | NP_001073291.2:p.Ala912= |