Linked Data
ClinVar Variation Id:
3180177
ClinVar RCV Id:
RCV004473078
dbSNP Id:
rs1308388959
gnomAD v2:
2-152220486-G-C
gnomAD v3:
2-151363972-G-C
gnomAD v4:
2-151363972-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151363972G>C , CM000664.2:g.151363972G>C | GRCh38 |
| NC_000002.11:g.152220486G>C , CM000664.1:g.152220486G>C | GRCh37 |
| NC_000002.10:g.151928732G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243347.5:c.124G>C MANE Select | ENSP00000243347.3:p.Ala42Pro | |
| ENST00000243347.4:c.124G>C | ENSP00000243347.3:p.Ala42Pro | |
| NM_007115.3:c.124G>C | NP_009046.2:p.Ala42Pro | |
| NR_110248.1:n.306+8823C>G | ||
| XM_011511710.1:c.124G>C | XP_011510012.1:p.Ala42Pro | |
| NM_007115.4:c.124G>C MANE Select | NP_009046.2:p.Ala42Pro |