Linked Data
ClinVar Variation Id:
1302162
ClinVar RCV Id:
RCV001754051
dbSNP Id:
rs752728024
gnomAD v2:
5-177031343-C-G
gnomAD v3:
5-177604342-C-G
gnomAD v4:
5-177604342-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604342C>G , CM000667.2:g.177604342C>G | GRCh38 |
| NC_000005.9:g.177031343C>G , CM000667.1:g.177031343C>G | GRCh37 |
| NC_000005.8:g.176963949C>G | NCBI36 |
| NG_015977.1:g.9225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.214C>G MANE Select | ENSP00000029410.5:p.Pro72Ala | |
| ENST00000029410.9:c.214C>G | ENSP00000029410.5:p.Pro72Ala | |
| ENST00000502420.1:n.193C>G | ||
| ENST00000505433.5:c.214C>G | ENSP00000425591.1:p.Pro72Ala | |
| ENST00000505468.1:c.-129C>G | ENSP00000420886.1:n.-129C>G | |
| ENST00000507061.1:c.31C>G | ENSP00000423868.1:p.Pro11Ala | |
| ENST00000510761.1:c.-129C>G | ENSP00000423438.1:n.-129C>G | |
| NM_007255.2:c.214C>G | NP_009186.1:p.Pro72Ala | |
| XM_005265805.2:c.-129C>G | XP_005265862.1:n.-129C>G | |
| XM_006714816.2:c.-286C>G | XP_006714879.1:n.-286C>G | |
| XM_011534421.1:c.-129C>G | XP_011532723.1:n.-129C>G | |
| XM_006714816.4:c.-286C>G | XP_006714879.1:n.-286C>G | |
| XM_017008999.2:c.-129C>G | XP_016864488.1:n.-129C>G | |
| NM_007255.3:c.214C>G MANE Select | NP_009186.1:p.Pro72Ala |