Linked Data
ClinVar Variation Id:
4598
ClinVar RCV Id:
RCV000004861
dbSNP Id:
rs121908323
ExAC:
4:9889247 G / C
gnomAD v2:
4-9889247-G-C
gnomAD v4:
4-9887623-G-C
PubMed:
PMID:18701466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9887623G>C , CM000666.2:g.9887623G>C | GRCh38 |
| NC_000004.11:g.9889247G>C , CM000666.1:g.9889247G>C | GRCh37 |
| NC_000004.10:g.9498345G>C | NCBI36 |
| NG_011540.1:g.157626C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264784.8:c.1235C>G MANE Select | ENSP00000264784.3:p.Pro412Arg | |
| ENST00000264784.7:c.1235C>G | ENSP00000264784.3:p.Pro412Arg | |
| ENST00000309065.7:c.1148C>G | ENSP00000311383.3:p.Pro383Arg | |
| ENST00000503280.5:n.111+20612C>G | ||
| ENST00000503803.5:n.20C>G | ||
| ENST00000505104.5:n.1269C>G | ||
| ENST00000506583.5:c.1148C>G | ENSP00000422209.1:p.Pro383Arg | |
| ENST00000512342.5:n.20C>G | ||
| NM_001001290.1:c.1148C>G | NP_001001290.1:p.Pro383Arg | |
| NM_020041.2:c.1235C>G | NP_064425.2:p.Pro412Arg | |
| XM_006713968.2:c.1235C>G | XP_006714031.1:p.Pro412Arg | |
| XM_006713969.2:c.1148C>G | XP_006714032.1:p.Pro383Arg | |
| XM_011513856.1:c.1235C>G | XP_011512158.1:p.Pro412Arg | |
| XM_011513857.1:c.1148C>G | XP_011512159.1:p.Pro383Arg | |
| XM_011513858.1:c.1148C>G | XP_011512160.1:p.Pro383Arg | |
| XM_011513859.1:c.1235C>G | XP_011512161.1:p.Pro412Arg | |
| XM_011513860.1:c.1235C>G | XP_011512162.1:p.Pro412Arg | |
| XM_011513861.1:c.1235C>G | XP_011512163.1:p.Pro412Arg | |
| XM_011513862.1:c.839C>G | XP_011512164.1:p.Pro280Arg | |
| XM_011513863.1:c.839C>G | XP_011512165.1:p.Pro280Arg | |
| XM_011513864.1:c.827C>G | XP_011512166.1:p.Pro276Arg | |
| XM_011513865.1:c.1235C>G | XP_011512167.1:p.Pro412Arg | |
| XM_011513866.1:c.1235C>G | XP_011512168.1:p.Pro412Arg | |
| XM_011513867.1:c.677C>G | XP_011512169.1:p.Pro226Arg | |
| XR_925341.1:n.1331C>G | ||
| XM_006713968.4:c.1235C>G | XP_006714031.1:p.Pro412Arg | |
| XM_011513856.3:c.1235C>G | XP_011512158.1:p.Pro412Arg | |
| XM_011513859.3:c.1235C>G | XP_011512161.1:p.Pro412Arg | |
| XM_011513860.3:c.1235C>G | XP_011512162.1:p.Pro412Arg | |
| XM_011513861.3:c.1235C>G | XP_011512163.1:p.Pro412Arg | |
| XM_011513862.3:c.839C>G | XP_011512164.1:p.Pro280Arg | |
| XM_011513864.2:c.827C>G | XP_011512166.1:p.Pro276Arg | |
| XM_011513865.2:c.1235C>G | XP_011512167.1:p.Pro412Arg | |
| XM_011513866.2:c.1235C>G | XP_011512168.1:p.Pro412Arg | |
| XM_011513867.3:c.677C>G | XP_011512169.1:p.Pro226Arg | |
| XM_017008457.2:c.1235C>G | XP_016863946.1:p.Pro412Arg | |
| XM_017008458.2:c.1235C>G | XP_016863947.1:p.Pro412Arg | |
| XM_017008459.1:c.773C>G | XP_016863948.1:p.Pro258Arg | |
| XM_017008460.2:c.839C>G | XP_016863949.1:p.Pro280Arg | |
| XM_024454150.1:c.1235C>G | XP_024309918.1:p.Pro412Arg | |
| XM_024454151.1:c.848C>G | XP_024309919.1:p.Pro283Arg | |
| XM_024454152.1:c.1235C>G | XP_024309920.1:p.Pro412Arg | |
| XM_024454153.1:c.1235C>G | XP_024309921.1:p.Pro412Arg | |
| XR_001741290.1:n.1286+20612C>G | ||
| XR_001741291.1:n.1286+20612C>G | ||
| XR_925341.3:n.1412C>G | ||
| NM_020041.3:c.1235C>G MANE Select | NP_064425.2:p.Pro412Arg | |
| NM_001001290.2:c.1148C>G | NP_001001290.1:p.Pro383Arg |