Linked Data
ClinVar Variation Id:
2025955
ClinVar RCV Id:
RCV002858247
dbSNP Id:
rs775658001
ExAC:
6:7585458 G / T
gnomAD v2:
6-7585458-G-T
gnomAD v4:
6-7585225-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585225G>T , CM000668.2:g.7585225G>T | GRCh38 |
| NC_000006.11:g.7585458G>T , CM000668.1:g.7585458G>T | GRCh37 |
| NC_000006.10:g.7530457G>T | NCBI36 |
| NG_008803.1:g.48589G>T , LRG_423:g.48589G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6634G>T | ENSP00000518230.1:p.Ala2212Ser | |
| ENST00000379802.8:c.7963G>T MANE Select | ENSP00000369129.3:p.Ala2655Ser | |
| ENST00000379802.7:c.7963G>T | ENSP00000369129.3:p.Ala2655Ser | |
| ENST00000418664.2:c.6166G>T | ENSP00000396591.2:p.Ala2056Ser | |
| NM_001008844.1:c.6166G>T | NP_001008844.1:p.Ala2056Ser | |
| NM_004415.2:c.7963G>T , LRG_423t1:c.7963G>T | NP_004406.2:p.Ala2655Ser | |
| XM_011514323.1:c.6634G>T | XP_011512625.1:p.Ala2212Ser | |
| NM_001008844.2:c.6166G>T | NP_001008844.1:p.Ala2056Ser | |
| NM_001319034.1:c.6634G>T | NP_001305963.1:p.Ala2212Ser | |
| NM_004415.3:c.7963G>T | NP_004406.2:p.Ala2655Ser | |
| NM_004415.4:c.7963G>T MANE Select | NP_004406.2:p.Ala2655Ser | |
| NM_001008844.3:c.6166G>T | NP_001008844.1:p.Ala2056Ser | |
| NM_001319034.2:c.6634G>T | NP_001305963.1:p.Ala2212Ser |