Linked Data
ClinVar Variation Id:
2162141
ClinVar RCV Id:
RCV003070091
dbSNP Id:
rs779340279
ExAC:
5:158750311 G / C
gnomAD v2:
5-158750311-G-C
gnomAD v3:
5-159323303-G-C
gnomAD v4:
5-159323303-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323303G>C , CM000667.2:g.159323303G>C | GRCh38 |
| NC_000005.9:g.158750311G>C , CM000667.1:g.158750311G>C | GRCh37 |
| NC_000005.8:g.158682889G>C | NCBI36 |
| NG_009618.1:g.12171C>G , LRG_71:g.12171C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2783C>G | ENSP00000512849.1:n.-148-2783C>G | |
| ENST00000696751.1:c.115C>G | ENSP00000512850.1:p.Pro39Ala | |
| ENST00000231228.3:c.115C>G MANE Select | ENSP00000231228.2:p.Pro39Ala | |
| ENST00000231228.2:c.115C>G | ENSP00000231228.2:p.Pro39Ala | |
| NM_002187.2:c.115C>G , LRG_71t1:c.115C>G | NP_002178.2:p.Pro39Ala | |
| XR_001742945.1:n.148-2231G>C | ||
| NM_002187.3:c.115C>G MANE Select | NP_002178.2:p.Pro39Ala |