Linked Data
ClinVar Variation Id:
976938
ClinVar RCV Id:
RCV001254443
dbSNP Id:
rs752493491
ExAC:
9:80919781 T / C
gnomAD v2:
9-80919781-T-C
gnomAD v4:
9-78304865-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304865T>C , CM000671.2:g.78304865T>C | GRCh38 |
| NC_000009.11:g.80919781T>C , CM000671.1:g.80919781T>C | GRCh37 |
| NC_000009.10:g.80109601T>C | NCBI36 |
| NG_012165.1:g.12723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.322T>C MANE Select | ENSP00000365773.3:p.Ser108Pro | |
| ENST00000347159.6:c.322T>C | ENSP00000317606.2:p.Ser108Pro | |
| ENST00000376588.3:c.322T>C | ENSP00000365773.3:p.Ser108Pro | |
| NM_021154.4:c.322T>C | NP_066977.1:p.Ser108Pro | |
| NM_058179.3:c.322T>C | NP_478059.1:p.Ser108Pro | |
| NM_058179.4:c.322T>C MANE Select | NP_478059.1:p.Ser108Pro | |
| NM_021154.5:c.322T>C | NP_066977.1:p.Ser108Pro |