Linked Data
ClinVar Variation Id:
291527
dbSNP Id:
rs199875795
ExAC:
1:103468820 G / C
gnomAD v2:
1-103468820-G-C
gnomAD v3:
1-103003264-G-C
gnomAD v4:
1-103003264-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103003264G>C , CM000663.2:g.103003264G>C | GRCh38 |
| NC_000001.10:g.103468820G>C , CM000663.1:g.103468820G>C | GRCh37 |
| NC_000001.9:g.103241408G>C | NCBI36 |
| NG_008033.1:g.110233C>G | |
| NG_008033.2:g.110233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1949C>G MANE Select | ENSP00000359114.3:p.Pro650Arg | |
| ENST00000461720.6:c.2102C>G | ENSP00000494909.1:p.Pro701Arg | |
| ENST00000644186.1:c.1949C>G | ENSP00000493821.1:p.Pro650Arg | |
| ENST00000645458.1:c.1949C>G | ENSP00000494179.1:p.Pro650Arg | |
| ENST00000647280.1:c.1949C>G | ENSP00000494583.1:p.Pro650Arg | |
| ENST00000353414.8:c.1832C>G | ENSP00000302551.6:p.Pro611Arg | |
| ENST00000358392.6:c.1985C>G | ENSP00000351163.2:p.Pro662Arg | |
| ENST00000370096.7:c.1949C>G | ENSP00000359114.3:p.Pro650Arg | |
| ENST00000461720.5:n.297C>G | ||
| ENST00000475980.1:n.39-473C>G | ||
| ENST00000512756.5:c.1601C>G | ENSP00000426533.1:p.Pro534Arg | |
| ENST00000635193.1:c.1267C>G | ||
| NM_001190709.1:c.1832C>G | NP_001177638.1:p.Pro611Arg | |
| NM_001854.3:c.1949C>G | NP_001845.3:p.Pro650Arg | |
| NM_080629.2:c.1985C>G | NP_542196.2:p.Pro662Arg | |
| NM_080630.3:c.1601C>G | NP_542197.3:p.Pro534Arg | |
| XM_011540719.1:c.1949C>G | XP_011539021.1:p.Pro650Arg | |
| XM_011540720.1:c.182C>G | XP_011539022.1:p.Pro61Arg | |
| XM_011540721.1:c.-480C>G | XP_011539023.1:n.-480C>G | |
| XR_946545.1:n.2347C>G | ||
| NR_134980.1:n.2267C>G | ||
| XM_017000334.1:c.2102C>G | XP_016855823.1:p.Pro701Arg | |
| XM_017000335.1:c.2096C>G | XP_016855824.1:p.Pro699Arg | |
| XM_017000336.1:c.2102C>G | XP_016855825.1:p.Pro701Arg | |
| XM_017000337.1:c.500C>G | XP_016855826.1:p.Pro167Arg | |
| NM_001854.4:c.1949C>G MANE Select | NP_001845.3:p.Pro650Arg | |
| NM_080630.4:c.1601C>G | NP_542197.3:p.Pro534Arg | |
| NR_134980.2:n.2293C>G | ||
| NM_001190709.2:c.1832C>G | NP_001177638.1:p.Pro611Arg | |
| NM_080629.3:c.1985C>G | NP_542196.2:p.Pro662Arg |