Linked Data
ClinVar Variation Id:
299698
dbSNP Id:
rs149274703
ExAC:
10:26998656 G / A
gnomAD v2:
10-26998656-G-A
gnomAD v3:
10-26709727-G-A
gnomAD v4:
10-26709727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26709727G>A , CM000672.2:g.26709727G>A | GRCh38 |
| NC_000010.10:g.26998656G>A , CM000672.1:g.26998656G>A | GRCh37 |
| NC_000010.9:g.27038662G>A | NCBI36 |
| NG_008972.1:g.17062G>A | |
| NG_008972.2:g.17062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.426G>A MANE Select | ENSP00000365388.5:p.Ala142= | |
| ENST00000376215.9:c.426G>A | ENSP00000365388.5:p.Ala142= | |
| ENST00000473224.1:n.177G>A | ||
| NM_014317.3:c.426G>A | NP_055132.2:p.Ala142= | |
| XM_005252439.2:c.-168G>A | XP_005252496.1:n.-168G>A | |
| XM_011519437.1:c.57G>A | XP_011517739.1:p.Ala19= | |
| XR_428636.2:n.714G>A | ||
| XR_930486.1:n.714G>A | ||
| NM_001321978.1:c.426G>A | NP_001308907.1:p.Ala142= | |
| NM_001321979.1:c.-168G>A | NP_001308908.1:n.-168G>A | |
| NM_014317.4:c.426G>A | NP_055132.2:p.Ala142= | |
| XM_011519437.3:c.57G>A | XP_011517739.1:p.Ala19= | |
| XM_017016011.2:c.105G>A | XP_016871500.1:p.Ala35= | |
| XM_024447922.1:c.426G>A | XP_024303690.1:p.Ala142= | |
| XM_024447923.1:c.-168G>A | XP_024303691.1:n.-168G>A | |
| XR_428636.4:n.714G>A | ||
| NM_014317.5:c.426G>A MANE Select | NP_055132.2:p.Ala142= | |
| NM_001321978.2:c.426G>A | NP_001308907.1:p.Ala142= | |
| NM_001321979.2:c.-168G>A | NP_001308908.1:n.-168G>A |