Linked Data
ClinVar Variation Id:
2880941
ClinVar RCV Id:
RCV003715653
dbSNP Id:
rs1190303133
gnomAD v2:
11-76925666-T-C
gnomAD v3:
11-77214621-T-C
gnomAD v4:
11-77214621-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214621T>C , CM000673.2:g.77214621T>C | GRCh38 |
| NC_000011.9:g.76925666T>C , CM000673.1:g.76925666T>C | GRCh37 |
| NC_000011.8:g.76603314T>C | NCBI36 |
| NG_009086.1:g.91357T>C | |
| NG_009086.2:g.91376T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6573T>C MANE Select | ENSP00000386331.3:p.Asp2191= | |
| ENST00000670577.1:c.4374T>C | ||
| ENST00000409619.6:c.6426T>C | ENSP00000386635.2:p.Asp2142= | |
| ENST00000409709.7:c.6573T>C | ENSP00000386331.3:p.Asp2191= | |
| ENST00000458169.2:c.3999T>C | ENSP00000417017.2:p.Asp1333= | |
| ENST00000458637.6:c.6453T>C | ENSP00000392185.2:p.Asp2151= | |
| ENST00000481328.7:n.5123T>C | ||
| ENST00000605744.1:n.2087T>C | ||
| NM_000260.3:c.6573T>C | NP_000251.3:p.Asp2191= | |
| NM_001127180.1:c.6453T>C | NP_001120652.1:p.Asp2151= | |
| XM_005274012.2:c.6456T>C | XP_005274069.1:p.Asp2152= | |
| XM_006718561.2:c.6459T>C | XP_006718624.1:p.Asp2153= | |
| XR_949941.1:n.6867T>C | ||
| XM_017017780.1:c.6663T>C | XP_016873269.1:p.Asp2221= | |
| XM_017017784.1:c.6546T>C | XP_016873273.1:p.Asp2182= | |
| XM_017017788.1:c.6549T>C | XP_016873277.1:p.Asp2183= | |
| XR_001747885.1:n.6652T>C | ||
| XR_001747887.1:n.6638T>C | ||
| NM_000260.4:c.6573T>C MANE Select | NP_000251.3:p.Asp2191= | |
| NM_001127180.2:c.6453T>C | NP_001120652.1:p.Asp2151= | |
| NM_001369365.1:c.6426T>C | NP_001356294.1:p.Asp2142= |