Linked Data
ClinVar Variation Id:
3021277
ClinVar RCV Id:
RCV003872420
dbSNP Id:
rs1239818824
gnomAD v2:
4-178359935-A-G
gnomAD v4:
4-177438781-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438781A>G , CM000666.2:g.177438781A>G | GRCh38 |
| NC_000004.11:g.178359935A>G , CM000666.1:g.178359935A>G | GRCh37 |
| NC_000004.10:g.178596929A>G | NCBI36 |
| NG_011845.2:g.8723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.471T>C MANE Select | ENSP00000264595.2:p.Asp157= | |
| ENST00000264595.6:c.471T>C | ENSP00000264595.2:p.Asp157= | |
| ENST00000502310.5:c.126T>C | ENSP00000423798.1:p.Asp42= | |
| ENST00000506853.5:n.505T>C | ||
| ENST00000510635.1:c.167T>C | ||
| ENST00000510955.5:n.392T>C | ||
| NM_000027.3:c.471T>C | NP_000018.2:p.Asp157= | |
| NM_001171988.1:c.471T>C | NP_001165459.1:p.Asp157= | |
| NR_033655.1:n.599T>C | ||
| XM_006714123.2:c.471T>C | XP_006714186.1:p.Asp157= | |
| XR_001741155.2:n.565T>C | ||
| NM_000027.4:c.471T>C MANE Select | NP_000018.2:p.Asp157= | |
| NM_001171988.2:c.471T>C | NP_001165459.1:p.Asp157= | |
| NR_033655.2:n.533T>C |