Linked Data
ClinVar Variation Id:
291499
dbSNP Id:
rs140954784
ExAC:
1:103354147 G / C
gnomAD v2:
1-103354147-G-C
gnomAD v3:
1-102888591-G-C
gnomAD v4:
1-102888591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102888591G>C , CM000663.2:g.102888591G>C | GRCh38 |
| NC_000001.10:g.103354147G>C , CM000663.1:g.103354147G>C | GRCh37 |
| NC_000001.9:g.103126735G>C | NCBI36 |
| NG_008033.1:g.224906C>G | |
| NG_008033.2:g.224906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4594C>G MANE Select | ENSP00000359114.3:p.Pro1532Ala | |
| ENST00000353414.8:c.4477C>G | ENSP00000302551.6:p.Pro1493Ala | |
| ENST00000358392.6:c.4630C>G | ENSP00000351163.2:p.Pro1544Ala | |
| ENST00000370096.7:c.4594C>G | ENSP00000359114.3:p.Pro1532Ala | |
| ENST00000512756.5:c.4246C>G | ENSP00000426533.1:p.Pro1416Ala | |
| ENST00000635193.1:c.3928C>G | ||
| NM_001190709.1:c.4477C>G | NP_001177638.1:p.Pro1493Ala | |
| NM_001854.3:c.4594C>G | NP_001845.3:p.Pro1532Ala | |
| NM_080629.2:c.4630C>G | NP_542196.2:p.Pro1544Ala | |
| NM_080630.3:c.4246C>G | NP_542197.3:p.Pro1416Ala | |
| XM_011540720.1:c.2827C>G | XP_011539022.1:p.Pro943Ala | |
| XM_011540721.1:c.2182C>G | XP_011539023.1:p.Pro728Ala | |
| NR_134980.1:n.4928C>G | ||
| XM_017000334.1:c.4747C>G | XP_016855823.1:p.Pro1583Ala | |
| XM_017000335.1:c.4741C>G | XP_016855824.1:p.Pro1581Ala | |
| XM_017000337.1:c.3145C>G | XP_016855826.1:p.Pro1049Ala | |
| NM_001854.4:c.4594C>G MANE Select | NP_001845.3:p.Pro1532Ala | |
| NM_080630.4:c.4246C>G | NP_542197.3:p.Pro1416Ala | |
| NR_134980.2:n.4954C>G | ||
| NM_001190709.2:c.4477C>G | NP_001177638.1:p.Pro1493Ala | |
| NM_080629.3:c.4630C>G | NP_542196.2:p.Pro1544Ala |