Linked Data
ClinVar Variation Id:
1360513
dbSNP Id:
rs774700020
ExAC:
11:68682318 G / A
gnomAD v2:
11-68682318-G-A
gnomAD v3:
11-68914850-G-A
gnomAD v4:
11-68914850-G-A
COSMIC:
COSM1210376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914850G>A , CM000673.2:g.68914850G>A | GRCh38 |
| NC_000011.9:g.68682318G>A , CM000673.1:g.68682318G>A | GRCh37 |
| NC_000011.8:g.68438894G>A | NCBI36 |
| NG_007976.1:g.16000G>A , LRG_250:g.16000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.739G>A MANE Select | ENSP00000255078.4:p.Ala247Thr | |
| ENST00000539224.2:c.868G>A | ||
| ENST00000674955.1:c.739G>A | ENSP00000502463.1:p.Ala247Thr | |
| ENST00000675118.1:c.86G>A | ||
| ENST00000675119.1:c.28G>A | ENSP00000501861.1:p.Ala10Thr | |
| ENST00000675305.1:c.28G>A | ENSP00000502365.1:p.Ala10Thr | |
| ENST00000675464.1:c.28G>A | ENSP00000502650.1:p.Ala10Thr | |
| ENST00000675615.1:c.739G>A | ENSP00000502413.1:p.Ala247Thr | |
| ENST00000675683.1:c.126G>A | ||
| ENST00000676173.1:n.783G>A | ||
| ENST00000676228.1:c.*62G>A | ENSP00000502375.1:n.*62G>A | |
| ENST00000676239.1:n.53G>A | ||
| ENST00000255078.7:c.739G>A | ENSP00000255078.3:p.Ala247Thr | |
| ENST00000539224.1:c.*62G>A | ENSP00000440465.1:n.*62G>A | |
| NM_002180.2:c.739G>A , LRG_250t1:c.739G>A | NP_002171.2:p.Ala247Thr | |
| XM_005273974.2:c.-273G>A | XP_005274031.1:n.-273G>A | |
| XM_005273976.1:c.739G>A | XP_005274033.1:p.Ala247Thr | |
| XR_247198.1:n.841G>A | ||
| XR_949903.1:n.841G>A | ||
| XM_005273976.2:c.739G>A | XP_005274033.1:p.Ala247Thr | |
| XM_017017669.2:c.-273G>A | XP_016873158.1:n.-273G>A | |
| XM_017017670.2:c.-273G>A | XP_016873159.1:n.-273G>A | |
| XM_017017671.2:c.739G>A | XP_016873160.1:p.Ala247Thr | |
| XR_949903.3:n.837G>A | ||
| NM_002180.3:c.739G>A MANE Select | NP_002171.2:p.Ala247Thr |