Linked Data
ClinVar Variation Id:
2060943
ClinVar RCV Id:
RCV002948110
dbSNP Id:
rs1272784408
gnomAD v2:
1-92941598-A-G
gnomAD v4:
1-92476041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92476041A>G , CM000663.2:g.92476041A>G | GRCh38 |
| NC_000001.10:g.92941598A>G , CM000663.1:g.92941598A>G | GRCh37 |
| NC_000001.9:g.92714186A>G | NCBI36 |
| NG_007874.1:g.15836T>C , LRG_63:g.15836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427103.6:c.1257T>C | ENSP00000399719.1:p.His419= | |
| ENST00000696667.1:c.305T>C | ENSP00000512792.1:p.Met102Thr | |
| ENST00000294702.6:c.1257T>C MANE Select | ENSP00000294702.5:p.His419= | |
| ENST00000294702.5:c.1257T>C | ENSP00000294702.5:p.His419= | |
| ENST00000370332.5:c.1257T>C | ENSP00000359357.1:p.His419= | |
| ENST00000427103.5:c.1257T>C | ENSP00000399719.1:p.His419= | |
| NM_001127215.1:c.1257T>C | NP_001120687.1:p.His419= | |
| NM_001127216.1:c.1257T>C | NP_001120688.1:p.His419= | |
| NM_005263.3:c.1257T>C , LRG_63t1:c.1257T>C | NP_005254.2:p.His419= | |
| XM_005270749.3:c.1257T>C | XP_005270806.1:p.His419= | |
| XM_011541245.1:c.1257T>C | XP_011539547.1:p.His419= | |
| XM_011541246.1:c.1257T>C | XP_011539548.1:p.His419= | |
| NM_001127215.2:c.1257T>C | NP_001120687.1:p.His419= | |
| NM_001127216.2:c.1257T>C | NP_001120688.1:p.His419= | |
| NM_005263.4:c.1257T>C | NP_005254.2:p.His419= | |
| XM_011541245.2:c.1257T>C | XP_011539547.1:p.His419= | |
| XM_011541246.2:c.1257T>C | XP_011539548.1:p.His419= | |
| NM_005263.5:c.1257T>C MANE Select | NP_005254.2:p.His419= | |
| NM_001127215.3:c.1257T>C | NP_001120687.1:p.His419= | |
| NM_001127216.3:c.1257T>C | NP_001120688.1:p.His419= |