Linked Data
ClinVar Variation Id:
409092
ClinVar RCV Id:
RCV002230377
dbSNP Id:
rs1060502246
gnomAD v4:
9-134842290-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842290G>C , CM000671.2:g.134842290G>C | GRCh38 |
| NC_000009.11:g.137734136G>C , CM000671.1:g.137734136G>C | GRCh37 |
| NC_000009.10:g.136873957G>C | NCBI36 |
| NG_008030.1:g.205485G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5504G>C | ENSP00000360885.4:p.Cys1835Ser | |
| ENST00000371817.8:c.5504G>C MANE Select | ENSP00000360882.3:p.Cys1835Ser | |
| ENST00000371817.7:c.5504G>C | ENSP00000360882.3:p.Cys1835Ser | |
| ENST00000618395.4:c.5504G>C | ENSP00000481360.1:p.Cys1835Ser | |
| NM_000093.4:c.5504G>C | NP_000084.3:p.Cys1835Ser | |
| NM_001278074.1:c.5504G>C | NP_001265003.1:p.Cys1835Ser | |
| NR_103451.2:n.71-22081C>G | ||
| NM_000093.5:c.5504G>C MANE Select | NP_000084.3:p.Cys1835Ser |