Linked Data
ClinVar Variation Id:
2362063
ClinVar RCV Id:
RCV004205988
dbSNP Id:
rs1242535673
gnomAD v2:
16-31488710-G-C
gnomAD v4:
16-31477389-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31477389G>C , CM000678.2:g.31477389G>C | GRCh38 |
| NC_000016.9:g.31488710G>C , CM000678.1:g.31488710G>C | GRCh37 |
| NC_000016.8:g.31396211G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394863.8:c.1199G>C MANE Select | ENSP00000378332.3:p.Arg400Pro | |
| ENST00000361773.7:c.1148G>C | ENSP00000355117.3:p.Arg383Pro | |
| ENST00000394858.6:c.1148G>C | ENSP00000378327.2:p.Arg383Pro | |
| ENST00000394863.7:c.1199G>C | ENSP00000378332.3:p.Arg400Pro | |
| ENST00000563712.6:c.*870G>C | ENSP00000459283.1:n.*870G>C | |
| ENST00000564176.5:n.4404G>C | ||
| ENST00000564804.1:c.*715G>C | ENSP00000454688.1:n.*715G>C | |
| ENST00000567066.6:c.*924G>C | ENSP00000456341.2:n.*924G>C | |
| ENST00000567607.5:c.1148G>C | ENSP00000457586.1:p.Arg383Pro | |
| NM_001042454.2:c.1199G>C | NP_001035919.1:p.Arg400Pro | |
| NM_001164719.1:c.1148G>C | NP_001158191.1:p.Arg383Pro | |
| NM_015927.4:c.1148G>C | NP_057011.2:p.Arg383Pro | |
| XM_024450412.1:c.1148G>C | XP_024306180.1:p.Arg383Pro | |
| NM_001042454.3:c.1199G>C MANE Select | NP_001035919.1:p.Arg400Pro | |
| NM_015927.5:c.1148G>C | NP_057011.2:p.Arg383Pro |