Linked Data
dbSNP Id:
rs770755917
gnomAD v2:
9-111679849-G-C
gnomAD v3:
9-108917569-G-C
gnomAD v4:
9-108917569-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108917569G>C , CM000671.2:g.108917569G>C | GRCh38 |
| NC_000009.11:g.111679849G>C , CM000671.1:g.111679849G>C | GRCh37 |
| NC_000009.10:g.110719670G>C | NCBI36 |
| NG_008788.1:g.21760C>G , LRG_251:g.21760C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.842C>G MANE Select | ENSP00000363779.5:p.Pro281Arg | |
| ENST00000495759.6:c.552+5273C>G | ENSP00000433514.2:n.552+5273C>G | |
| ENST00000674535.1:c.842C>G | ENSP00000502142.1:p.Pro281Arg | |
| ENST00000674704.1:n.2649C>G | ||
| ENST00000674836.1:n.1147C>G | ||
| ENST00000674890.1:c.842C>G | ENSP00000501870.1:p.Pro281Arg | |
| ENST00000674938.1:c.500C>G | ENSP00000502427.1:p.Pro167Arg | |
| ENST00000674948.1:c.500C>G | ENSP00000501602.1:p.Pro167Arg | |
| ENST00000675052.1:c.842C>G | ENSP00000502664.1:p.Pro281Arg | |
| ENST00000675078.1:c.842C>G | ENSP00000501549.1:p.Pro281Arg | |
| ENST00000675215.1:c.*66C>G | ENSP00000502558.1:n.*66C>G | |
| ENST00000675233.1:n.2638C>G | ||
| ENST00000675321.1:c.842C>G | ENSP00000502751.1:p.Pro281Arg | |
| ENST00000675325.1:n.2638C>G | ||
| ENST00000675335.1:c.842C>G | ENSP00000502182.1:p.Pro281Arg | |
| ENST00000675400.1:n.2515C>G | ||
| ENST00000675406.1:c.842C>G | ENSP00000501893.1:p.Pro281Arg | |
| ENST00000675458.1:c.935C>G | ENSP00000501754.1:n.935C>G | |
| ENST00000675507.1:n.2638C>G | ||
| ENST00000675535.1:c.842C>G | ENSP00000501667.1:p.Pro281Arg | |
| ENST00000675566.1:n.2638C>G | ||
| ENST00000675602.1:n.2641C>G | ||
| ENST00000675647.1:n.1147C>G | ||
| ENST00000675711.1:c.842C>G | ENSP00000502485.1:p.Pro281Arg | |
| ENST00000675727.1:c.842C>G | ENSP00000501722.1:p.Pro281Arg | |
| ENST00000675748.1:n.2476C>G | ||
| ENST00000675765.1:c.842C>G | ENSP00000502640.1:p.Pro281Arg | |
| ENST00000675825.1:c.842C>G | ENSP00000502632.1:p.Pro281Arg | |
| ENST00000675877.1:n.1147C>G | ||
| ENST00000675893.1:c.*1911C>G | ENSP00000502001.1:n.*1911C>G | |
| ENST00000675943.1:n.2638C>G | ||
| ENST00000675979.1:c.*85C>G | ENSP00000502208.1:n.*85C>G | |
| ENST00000676044.1:c.842C>G | ENSP00000502378.1:p.Pro281Arg | |
| ENST00000676086.1:n.2638C>G | ||
| ENST00000676121.1:n.2670C>G | ||
| ENST00000676237.1:c.743C>G | ENSP00000501828.1:p.Pro248Arg | |
| ENST00000676416.1:c.500C>G | ENSP00000501660.1:p.Pro167Arg | |
| ENST00000676424.1:n.2638C>G | ||
| ENST00000676429.1:n.5311C>G | ||
| ENST00000374647.9:c.842C>G | ENSP00000363779.5:p.Pro281Arg | |
| ENST00000537196.1:c.-206C>G | ENSP00000439367.1:n.-206C>G | |
| NM_003640.3:c.842C>G , LRG_251t1:c.842C>G | NP_003631.2:p.Pro281Arg | |
| XM_005252285.2:c.500C>G | XP_005252342.1:p.Pro167Arg | |
| XM_011519136.1:c.842C>G | XP_011517438.1:p.Pro281Arg | |
| XM_011519137.1:c.500C>G | XP_011517439.1:p.Pro167Arg | |
| XR_929859.1:n.1158C>G | ||
| NM_001318360.1:c.500C>G | NP_001305289.1:p.Pro167Arg | |
| NM_001330749.1:c.-206C>G | NP_001317678.1:n.-206C>G | |
| NM_003640.4:c.842C>G | NP_003631.2:p.Pro281Arg | |
| XM_011519136.2:c.842C>G | XP_011517438.1:p.Pro281Arg | |
| XR_929859.3:n.1169C>G | ||
| NM_003640.5:c.842C>G MANE Select | NP_003631.2:p.Pro281Arg | |
| NM_001318360.2:c.500C>G | NP_001305289.1:p.Pro167Arg | |
| NM_001330749.2:c.-206C>G | NP_001317678.1:n.-206C>G |