Linked Data
ClinVar Variation Id:
257346
dbSNP Id:
rs3758626
ExAC:
10:70225504 G / T
gnomAD v2:
10-70225504-G-T
gnomAD v3:
10-68465747-G-T
gnomAD v4:
10-68465747-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68465747G>T , CM000672.2:g.68465747G>T | GRCh38 |
| NC_000010.10:g.70225504G>T , CM000672.1:g.70225504G>T | GRCh37 |
| NC_000010.9:g.69895510G>T | NCBI36 |
| NG_034247.1:g.11227C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358410.8:c.507C>A MANE Select | ENSP00000351185.3:p.Ala169= | |
| ENST00000358410.7:c.507C>A | ENSP00000351185.3:p.Ala169= | |
| ENST00000399179.6:c.507C>A | ENSP00000382132.3:p.Ala169= | |
| ENST00000399180.3:c.507C>A | ENSP00000382133.3:p.Ala169= | |
| ENST00000551118.6:c.507C>A | ENSP00000450393.3:p.Ala169= | |
| NM_001080449.2:c.507C>A | NP_001073918.2:p.Ala169= | |
| NR_102264.1:n.596C>A | ||
| XM_006717680.2:c.597C>A | XP_006717743.1:p.Ala199= | |
| XM_011539416.1:c.597C>A | XP_011537718.1:p.Ala199= | |
| XM_011539418.1:c.597C>A | XP_011537720.1:p.Ala199= | |
| XM_011539419.1:c.597C>A | XP_011537721.1:p.Ala199= | |
| XM_006717680.3:c.597C>A | XP_006717743.1:p.Ala199= | |
| XM_017015799.1:c.-86+2376C>A | XP_016871288.1:n.-86+2376C>A | |
| NM_001080449.3:c.507C>A MANE Select | NP_001073918.2:p.Ala169= | |
| NR_102264.2:n.596C>A |