Linked Data
ClinVar Variation Id:
291526
dbSNP Id:
rs201849355
ExAC:
1:103468326 G / A
gnomAD v2:
1-103468326-G-A
gnomAD v3:
1-103002770-G-A
gnomAD v4:
1-103002770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103002770G>A , CM000663.2:g.103002770G>A | GRCh38 |
| NC_000001.10:g.103468326G>A , CM000663.1:g.103468326G>A | GRCh37 |
| NC_000001.9:g.103240914G>A | NCBI36 |
| NG_008033.1:g.110727C>T | |
| NG_008033.2:g.110727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2020C>T MANE Select | ENSP00000359114.3:p.Pro674Ser | |
| ENST00000461720.6:c.2173C>T | ENSP00000494909.1:p.Pro725Ser | |
| ENST00000644186.1:c.2020C>T | ENSP00000493821.1:p.Pro674Ser | |
| ENST00000645458.1:c.2020C>T | ENSP00000494179.1:p.Pro674Ser | |
| ENST00000647280.1:c.2020C>T | ENSP00000494583.1:p.Pro674Ser | |
| ENST00000353414.8:c.1903C>T | ENSP00000302551.6:p.Pro635Ser | |
| ENST00000358392.6:c.2056C>T | ENSP00000351163.2:p.Pro686Ser | |
| ENST00000370096.7:c.2020C>T | ENSP00000359114.3:p.Pro674Ser | |
| ENST00000461720.5:n.368C>T | ||
| ENST00000475980.1:n.60C>T | ||
| ENST00000512756.5:c.1672C>T | ENSP00000426533.1:p.Pro558Ser | |
| ENST00000635193.1:c.1338C>T | ||
| NM_001190709.1:c.1903C>T | NP_001177638.1:p.Pro635Ser | |
| NM_001854.3:c.2020C>T | NP_001845.3:p.Pro674Ser | |
| NM_080629.2:c.2056C>T | NP_542196.2:p.Pro686Ser | |
| NM_080630.3:c.1672C>T | NP_542197.3:p.Pro558Ser | |
| XM_011540719.1:c.2020C>T | XP_011539021.1:p.Pro674Ser | |
| XM_011540720.1:c.253C>T | XP_011539022.1:p.Pro85Ser | |
| XM_011540721.1:c.-409C>T | XP_011539023.1:n.-409C>T | |
| XR_946545.1:n.2418C>T | ||
| NR_134980.1:n.2338C>T | ||
| XM_017000334.1:c.2173C>T | XP_016855823.1:p.Pro725Ser | |
| XM_017000335.1:c.2167C>T | XP_016855824.1:p.Pro723Ser | |
| XM_017000336.1:c.2173C>T | XP_016855825.1:p.Pro725Ser | |
| XM_017000337.1:c.571C>T | XP_016855826.1:p.Pro191Ser | |
| NM_001854.4:c.2020C>T MANE Select | NP_001845.3:p.Pro674Ser | |
| NM_080630.4:c.1672C>T | NP_542197.3:p.Pro558Ser | |
| NR_134980.2:n.2364C>T | ||
| NM_001190709.2:c.1903C>T | NP_001177638.1:p.Pro635Ser | |
| NM_080629.3:c.2056C>T | NP_542196.2:p.Pro686Ser |