Linked Data
ClinVar Variation Id:
2722550
ClinVar RCV Id:
RCV003558957
dbSNP Id:
rs140561785
ExAC:
10:60566789 G / A
gnomAD v2:
10-60566789-G-A
gnomAD v3:
10-58807029-G-A
gnomAD v4:
10-58807029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58807029G>A , CM000672.2:g.58807029G>A | GRCh38 |
| NC_000010.10:g.60566789G>A , CM000672.1:g.60566789G>A | GRCh37 |
| NC_000010.9:g.60236795G>A | NCBI36 |
| NG_029759.2:g.298886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.2247G>A MANE Select | ENSP00000362993.3:p.Thr749= | |
| ENST00000263103.1:c.1125G>A | ENSP00000263103.1:p.Thr375= | |
| ENST00000373886.7:c.2247G>A | ENSP00000362993.3:p.Thr749= | |
| NM_001080512.2:c.2247G>A | NP_001073981.1:p.Thr749= | |
| XM_005270169.3:c.2106G>A | XP_005270226.1:p.Thr702= | |
| XM_011540185.1:c.2319G>A | XP_011538487.1:p.Thr773= | |
| XM_011540186.1:c.2316G>A | XP_011538488.1:p.Thr772= | |
| XM_011540187.1:c.2319G>A | XP_011538489.1:p.Thr773= | |
| XM_011540188.1:c.2103G>A | XP_011538490.1:p.Thr701= | |
| XM_011540189.1:c.2091G>A | XP_011538491.1:p.Thr697= | |
| XM_011540190.1:c.2007G>A | XP_011538492.1:p.Thr669= | |
| XM_011540191.1:c.1863G>A | XP_011538493.1:p.Thr621= | |
| XM_005270169.5:c.2106G>A | XP_005270226.1:p.Thr702= | |
| XM_011540185.2:c.2319G>A | XP_011538487.1:p.Thr773= | |
| XM_011540190.3:c.2007G>A | XP_011538492.1:p.Thr669= | |
| XM_011540191.2:c.1863G>A | XP_011538493.1:p.Thr621= | |
| XM_017016677.1:c.2115G>A | XP_016872166.1:p.Thr705= | |
| XM_017016678.1:c.2103G>A | XP_016872167.1:p.Thr701= | |
| XM_024448174.1:c.2334G>A | XP_024303942.1:p.Thr778= | |
| XM_024448175.1:c.2007G>A | XP_024303943.1:p.Thr669= | |
| NM_001080512.3:c.2247G>A MANE Select | NP_001073981.1:p.Thr749= |