Linked Data
ClinVar Variation Id:
38919
ClinVar RCV Id:
RCV000032170
dbSNP Id:
rs199422311
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240633G>C , CM000676.2:g.24240633G>C | GRCh38 |
| NC_000014.8:g.24709839G>C , CM000676.1:g.24709839G>C | GRCh37 |
| NC_000014.7:g.23779679G>C | NCBI36 |
| NG_016650.1:g.7042C>G | |
| NG_054634.1:g.13217G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1150C>G | ||
| ENST00000557921.3:c.739C>G | ENSP00000453157.3:p.Pro247Ala | |
| ENST00000699682.1:n.1237C>G | ||
| ENST00000699683.1:n.1287C>G | ||
| ENST00000699684.1:c.*440C>G | ENSP00000514523.1:n.*440C>G | |
| ENST00000699685.1:n.1051C>G | ||
| ENST00000699686.1:c.640C>G | ENSP00000514524.1:p.Pro214Ala | |
| ENST00000699687.1:c.742C>G | ENSP00000514525.1:p.Pro248Ala | |
| ENST00000699688.1:n.1047C>G | ||
| ENST00000699689.1:n.1403C>G | ||
| ENST00000699690.1:n.1600C>G | ||
| ENST00000699691.1:n.1744C>G | ||
| ENST00000699693.1:n.1264C>G | ||
| ENST00000699694.1:n.1506C>G | ||
| ENST00000699695.1:c.*219C>G | ENSP00000514526.1:n.*219C>G | |
| ENST00000699696.1:n.1150C>G | ||
| ENST00000699697.1:c.847C>G | ENSP00000514527.1:p.Pro283Ala | |
| ENST00000699698.1:n.768C>G | ||
| ENST00000699699.1:n.1171C>G | ||
| ENST00000699700.1:n.1294C>G | ||
| ENST00000699701.1:c.*227C>G | ENSP00000514528.1:n.*227C>G | |
| ENST00000267415.12:c.847C>G MANE Select | ENSP00000267415.7:p.Pro283Ala | |
| ENST00000557921.2:c.739C>G | ENSP00000453157.2:p.Pro247Ala | |
| ENST00000646753.1:c.742C>G | ENSP00000494065.1:p.Pro248Ala | |
| ENST00000267415.11:c.847C>G | ENSP00000267415.7:p.Pro283Ala | |
| ENST00000399423.8:c.847C>G | ENSP00000382350.4:p.Pro283Ala | |
| ENST00000558476.5:c.409C>G | ENSP00000452724.1:p.Pro137Ala | |
| ENST00000558566.1:c.*219C>G | ENSP00000453025.1:n.*219C>G | |
| ENST00000559019.1:c.*219C>G | ENSP00000453675.1:n.*219C>G | |
| ENST00000559549.1:n.573C>G | ||
| ENST00000559969.5:c.757+46C>G | ||
| ENST00000626689.2:c.*219C>G | ENSP00000486681.1:n.*219C>G | |
| NM_001099274.1:c.847C>G | NP_001092744.1:p.Pro283Ala | |
| NM_012461.2:c.847C>G | NP_036593.2:p.Pro283Ala | |
| XM_005267528.2:c.847C>G | XP_005267585.1:p.Pro283Ala | |
| XM_005267529.2:c.742C>G | XP_005267586.1:p.Pro248Ala | |
| NM_001099274.2:c.847C>G | NP_001092744.1:p.Pro283Ala | |
| NM_001363668.1:c.742C>G | NP_001350597.1:p.Pro248Ala | |
| NM_012461.3:c.847C>G | NP_036593.2:p.Pro283Ala | |
| XM_011536642.2:c.*227C>G | XP_011534944.1:n.*227C>G | |
| XM_017021216.2:c.205C>G | XP_016876705.1:p.Pro69Ala | |
| XM_017021217.1:c.205C>G | XP_016876706.1:p.Pro69Ala | |
| NM_001099274.3:c.847C>G MANE Select | NP_001092744.1:p.Pro283Ala | |
| NM_001363668.2:c.742C>G | NP_001350597.1:p.Pro248Ala |