Linked Data
ClinVar Variation Id:
2683429
ClinVar RCV Id:
RCV003480249
dbSNP Id:
rs769849283
ExAC:
17:42428999 C / G
gnomAD v2:
17-42428999-C-G
gnomAD v3:
17-44351631-C-G
gnomAD v4:
17-44351631-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351631C>G , CM000679.2:g.44351631C>G | GRCh38 |
| NC_000017.10:g.42428999C>G , CM000679.1:g.42428999C>G | GRCh37 |
| NC_000017.9:g.39784525C>G | NCBI36 |
| NG_007886.1:g.11509C>G , LRG_661:g.11509C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1015C>G MANE Select | ENSP00000053867.2:p.Pro339Ala | |
| ENST00000639447.1:c.1015C>G | ENSP00000492014.1:p.Pro339Ala | |
| ENST00000053867.7:c.1015C>G | ENSP00000053867.2:p.Pro339Ala | |
| ENST00000586443.1:c.456C>G | ||
| ENST00000589265.5:c.544C>G | ENSP00000467616.1:p.Pro182Ala | |
| ENST00000589923.1:n.273C>G | ||
| NM_002087.3:c.1015C>G | NP_002078.1:p.Pro339Ala | |
| XM_005257253.1:c.1015C>G | XP_005257310.1:p.Pro339Ala | |
| XM_024450730.1:c.1015C>G | XP_024306498.1:p.Pro339Ala | |
| NM_002087.4:c.1015C>G MANE Select | NP_002078.1:p.Pro339Ala |