Linked Data
ClinVar Variation Id:
421881
ClinVar RCV Id:
RCV000478835
dbSNP Id:
rs1064795422
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37490339G>C , CM000683.2:g.37490339G>C | GRCh38 |
| NC_000021.8:g.38862641G>C , CM000683.1:g.38862641G>C | GRCh37 |
| NC_000021.7:g.37784511G>C | NCBI36 |
| NG_009366.1:g.127783G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338785.8:c.829G>C | ENSP00000342690.3:p.Ala277Pro | |
| ENST00000398960.7:c.829G>C | ENSP00000381932.2:p.Ala277Pro | |
| ENST00000642309.1:c.715G>C | ENSP00000495596.1:p.Ala239Pro | |
| ENST00000643624.1:c.802G>C | ENSP00000493627.1:p.Ala268Pro | |
| ENST00000643808.1:n.632G>C | ||
| ENST00000643854.1:c.715G>C | ENSP00000493653.1:p.Ala239Pro | |
| ENST00000644367.1:n.193G>C | ||
| ENST00000644942.1:c.829G>C | ENSP00000494544.1:p.Ala277Pro | |
| ENST00000645424.1:c.829G>C | ENSP00000494897.1:p.Ala277Pro | |
| ENST00000645774.1:c.850G>C | ENSP00000494536.1:p.Ala284Pro | |
| ENST00000646224.1:n.244G>C | ||
| ENST00000646523.1:c.829G>C | ENSP00000495632.1:p.Ala277Pro | |
| ENST00000646548.1:c.802G>C | ENSP00000495908.1:p.Ala268Pro | |
| ENST00000647188.2:c.802G>C MANE Select | ENSP00000494572.1:p.Ala268Pro | |
| ENST00000647425.1:c.802G>C | ENSP00000496748.1:p.Ala268Pro | |
| ENST00000647504.1:c.715G>C | ENSP00000495571.1:p.Ala239Pro | |
| ENST00000338785.7:c.829G>C | ENSP00000342690.3:p.Ala277Pro | |
| ENST00000339659.8:c.802G>C | ENSP00000340373.3:p.Ala268Pro | |
| ENST00000398956.2:c.829G>C | ENSP00000381929.2:p.Ala277Pro | |
| ENST00000398960.6:c.829G>C | ENSP00000381932.2:p.Ala277Pro | |
| NM_001396.3:c.829G>C | NP_001387.2:p.Ala277Pro | |
| NM_101395.2:c.829G>C | NP_567824.1:p.Ala277Pro | |
| NM_130436.2:c.802G>C | NP_569120.1:p.Ala268Pro | |
| NM_130438.2:c.829G>C | NP_569122.1:p.Ala277Pro | |
| XM_005260931.3:c.742G>C | XP_005260988.1:p.Ala248Pro | |
| XM_005260933.3:c.145G>C | XP_005260990.1:p.Ala49Pro | |
| XM_006723976.2:c.829G>C | XP_006724039.1:p.Ala277Pro | |
| XM_006723977.2:c.829G>C | XP_006724040.1:p.Ala277Pro | |
| XM_006723978.2:c.829G>C | XP_006724041.1:p.Ala277Pro | |
| XM_006723979.2:c.802G>C | XP_006724042.1:p.Ala268Pro | |
| XM_011529482.1:c.850G>C | XP_011527784.1:p.Ala284Pro | |
| XM_011529483.1:c.829G>C | XP_011527785.1:p.Ala277Pro | |
| XM_011529484.1:c.823G>C | XP_011527786.1:p.Ala275Pro | |
| XM_011529485.1:c.715G>C | XP_011527787.1:p.Ala239Pro | |
| NM_001347721.1:c.802G>C | NP_001334650.1:p.Ala268Pro | |
| NM_001347722.1:c.802G>C | NP_001334651.1:p.Ala268Pro | |
| NM_001347723.1:c.715G>C | NP_001334652.1:p.Ala239Pro | |
| NM_001396.4:c.829G>C | NP_001387.2:p.Ala277Pro | |
| XM_005260933.5:c.145G>C | XP_005260990.1:p.Ala49Pro | |
| XM_006723976.3:c.829G>C | XP_006724039.1:p.Ala277Pro | |
| XM_006723977.3:c.829G>C | XP_006724040.1:p.Ala277Pro | |
| XM_006723978.3:c.829G>C | XP_006724041.1:p.Ala277Pro | |
| XM_011529483.2:c.829G>C | XP_011527785.1:p.Ala277Pro | |
| XM_017028284.1:c.802G>C | XP_016883773.1:p.Ala268Pro | |
| XM_017028286.2:c.742G>C | XP_016883775.1:p.Ala248Pro | |
| XM_024452057.1:c.715G>C | XP_024307825.1:p.Ala239Pro | |
| NM_001347721.2:c.802G>C MANE Select | NP_001334650.1:p.Ala268Pro | |
| NM_001347722.2:c.802G>C | NP_001334651.1:p.Ala268Pro | |
| NM_001347723.2:c.715G>C | NP_001334652.1:p.Ala239Pro | |
| NM_001396.5:c.829G>C | NP_001387.2:p.Ala277Pro |