Linked Data
ClinVar Variation Id:
976880
ClinVar RCV Id:
RCV001254376
dbSNP Id:
rs377282696
ExAC:
9:80919766 G / C
gnomAD v2:
9-80919766-G-C
gnomAD v3:
9-78304850-G-C
gnomAD v4:
9-78304850-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304850G>C , CM000671.2:g.78304850G>C | GRCh38 |
| NC_000009.11:g.80919766G>C , CM000671.1:g.80919766G>C | GRCh37 |
| NC_000009.10:g.80109586G>C | NCBI36 |
| NG_012165.1:g.12708G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.307G>C MANE Select | ENSP00000365773.3:p.Val103Leu | |
| ENST00000347159.6:c.307G>C | ENSP00000317606.2:p.Val103Leu | |
| ENST00000376588.3:c.307G>C | ENSP00000365773.3:p.Val103Leu | |
| NM_021154.4:c.307G>C | NP_066977.1:p.Val103Leu | |
| NM_058179.3:c.307G>C | NP_478059.1:p.Val103Leu | |
| NM_058179.4:c.307G>C MANE Select | NP_478059.1:p.Val103Leu | |
| NM_021154.5:c.307G>C | NP_066977.1:p.Val103Leu |