Linked Data
ClinVar Variation Id:
13861
ClinVar RCV Id:
RCV000014875
dbSNP Id:
rs121913687
gnomAD v4:
4-54736552-A-C
PubMed:
PMID:9699740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54736552A>C , CM000666.2:g.54736552A>C | GRCh38 |
| NC_000004.11:g.55602718A>C , CM000666.1:g.55602718A>C | GRCh37 |
| NC_000004.10:g.55297475A>C | NCBI36 |
| NG_007456.1:g.83558A>C , LRG_307:g.83558A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2527A>C | ENSP00000390987.3:p.Thr843Pro | |
| ENST00000684818.1:n.1231A>C | ||
| ENST00000685269.1:n.2617A>C | ||
| ENST00000686011.1:c.2524A>C | ENSP00000509704.1:p.Thr842Pro | |
| ENST00000687109.1:c.2542A>C | ENSP00000509371.1:p.Thr848Pro | |
| ENST00000687208.1:n.2951A>C | ||
| ENST00000687246.1:c.2404A>C | ENSP00000509114.1:p.Thr802Pro | |
| ENST00000687265.1:n.2697A>C | ||
| ENST00000687295.1:c.2527A>C | ENSP00000509450.1:p.Thr843Pro | |
| ENST00000688060.1:n.336A>C | ||
| ENST00000689832.1:c.2539A>C | ENSP00000509084.1:p.Thr847Pro | |
| ENST00000689994.1:c.2029A>C | ENSP00000509156.1:p.Thr677Pro | |
| ENST00000690543.1:c.2530A>C | ENSP00000508831.1:p.Thr844Pro | |
| ENST00000690917.1:n.2757A>C | ||
| ENST00000691361.1:n.1449A>C | ||
| ENST00000692301.1:n.1231A>C | ||
| ENST00000692783.1:c.2536A>C | ENSP00000508733.1:p.Thr846Pro | |
| ENST00000692991.1:n.2636A>C | ||
| ENST00000288135.6:c.2539A>C MANE Select | ENSP00000288135.6:p.Thr847Pro | |
| ENST00000288135.5:c.2539A>C | ENSP00000288135.5:p.Thr847Pro | |
| ENST00000412167.6:c.2527A>C | ENSP00000390987.2:p.Thr843Pro | |
| NM_000222.2:c.2539A>C , LRG_307t1:c.2539A>C | NP_000213.1:p.Thr847Pro | |
| NM_001093772.1:c.2527A>C | NP_001087241.1:p.Thr843Pro | |
| XM_005265740.1:c.2542A>C | XP_005265797.1:p.Thr848Pro | |
| XM_005265741.1:c.2539A>C | XP_005265798.1:p.Thr847Pro | |
| XM_005265742.1:c.2530A>C | XP_005265799.1:p.Thr844Pro | |
| XM_005265742.3:c.2530A>C | XP_005265799.1:p.Thr844Pro | |
| XM_017008178.1:c.2536A>C | XP_016863667.1:p.Thr846Pro | |
| XM_017008179.1:c.2527A>C | XP_016863668.1:p.Thr843Pro | |
| XM_017008180.1:c.2524A>C | XP_016863669.1:p.Thr842Pro | |
| NM_000222.3:c.2539A>C MANE Select | NP_000213.1:p.Thr847Pro | |
| NM_001093772.2:c.2527A>C | NP_001087241.1:p.Thr843Pro | |
| NM_001385284.1:c.2542A>C | NP_001372213.1:p.Thr848Pro | |
| NM_001385285.1:c.2536A>C | NP_001372214.1:p.Thr846Pro | |
| NM_001385286.1:c.2524A>C | NP_001372215.1:p.Thr842Pro | |
| NM_001385288.1:c.2530A>C | NP_001372217.1:p.Thr844Pro | |
| NM_001385290.1:c.2539A>C | NP_001372219.1:p.Thr847Pro | |
| NM_001385292.1:c.2527A>C | NP_001372221.1:p.Thr843Pro |