Linked Data
ClinVar Variation Id:
430116
ClinVar RCV Id:
RCV000493342
dbSNP Id:
rs1131691790
gnomAD v4:
19-35733105-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733105C>G , CM000681.2:g.35733105C>G | GRCh38 |
| NC_000019.9:g.36224006C>G , CM000681.1:g.36224006C>G | GRCh37 |
| NC_000019.8:g.40915846C>G | NCBI36 |
| NG_052906.1:g.20087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.862C>G | ||
| ENST00000673918.2:c.6490C>G | ENSP00000501283.1:p.Pro2164Ala | |
| ENST00000674114.2:c.4097C>G | ENSP00000501039.2:n.4097C>G | |
| ENST00000684977.1:c.1774C>G | ENSP00000509384.1:p.Pro592Ala | |
| ENST00000689544.1:n.1709C>G | ||
| ENST00000691421.1:c.1777C>G | ENSP00000508674.1:p.Pro593Ala | |
| ENST00000691855.1:c.6098C>G | ||
| ENST00000692961.1:c.6556C>G | ENSP00000509289.1:p.Pro2186Ala | |
| ENST00000693677.1:c.705-492C>G | ENSP00000509779.1:n.705-492C>G | |
| ENST00000420124.4:c.6556C>G MANE Select | ENSP00000398837.2:p.Pro2186Ala | |
| ENST00000673918.1:c.6490C>G | ENSP00000501283.1:p.Pro2164Ala | |
| ENST00000674114.1:c.3878C>G | ||
| ENST00000420124.2:c.6556C>G | ENSP00000398837.1:p.Pro2186Ala | |
| NM_014727.2:c.6556C>G | NP_055542.1:p.Pro2186Ala | |
| XM_011527561.1:c.6490C>G | XP_011525863.1:p.Pro2164Ala | |
| XM_011527562.1:c.6556C>G | XP_011525864.1:p.Pro2186Ala | |
| XM_011527563.1:c.6280C>G | XP_011525865.1:p.Pro2094Ala | |
| XM_011527561.2:c.5992C>G | XP_011525863.2:p.Pro1998Ala | |
| XM_011527562.2:c.6556C>G | XP_011525864.1:p.Pro2186Ala | |
| XM_017027544.1:c.6556C>G | XP_016883033.1:p.Pro2186Ala | |
| XM_017027545.1:c.5992C>G | XP_016883034.1:p.Pro1998Ala | |
| XM_017027546.1:c.3520C>G | XP_016883035.1:p.Pro1174Ala | |
| NM_014727.3:c.6556C>G MANE Select | NP_055542.1:p.Pro2186Ala |