Linked Data
ClinVar Variation Id:
14288
ClinVar RCV Id:
RCV000015358
dbSNP Id:
rs121913582
gnomAD v2:
1-236998886-G-C
gnomAD v3:
1-236835586-G-C
gnomAD v4:
1-236835586-G-C
PubMed:
PMID:12068375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236835586G>C , CM000663.2:g.236835586G>C | GRCh38 |
| NC_000001.10:g.236998886G>C , CM000663.1:g.236998886G>C | GRCh37 |
| NC_000001.9:g.235065509G>C | NCBI36 |
| NG_008959.1:g.45306G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.1228G>C MANE Select | ENSP00000355536.5:p.Ala410Pro | |
| ENST00000535889.6:c.1228G>C | ENSP00000441845.1:p.Ala410Pro | |
| ENST00000650888.1:c.*270G>C | ENSP00000498393.1:n.*270G>C | |
| ENST00000651455.1:c.1115G>C | ENSP00000498963.1:p.Ser372Thr | |
| ENST00000674797.2:c.880G>C | ENSP00000502299.2:p.Ala294Pro | |
| ENST00000679569.1:n.1542G>C | ||
| ENST00000679842.1:c.1228G>C | ENSP00000506109.1:p.Ala410Pro | |
| ENST00000680454.1:n.1672G>C | ||
| ENST00000681102.1:c.1228G>C | ENSP00000505600.1:p.Ala410Pro | |
| ENST00000681177.1:c.1228G>C | ENSP00000506327.1:p.Ala410Pro | |
| ENST00000681937.1:n.1860G>C | ||
| ENST00000366577.9:c.1228G>C | ENSP00000355536.5:p.Ala410Pro | |
| ENST00000463959.1:n.1247G>C | ||
| ENST00000535889.5:c.1228G>C | ENSP00000441845.1:p.Ala410Pro | |
| NM_000254.2:c.1228G>C | NP_000245.2:p.Ala410Pro | |
| NM_001291939.1:c.1228G>C | NP_001278868.1:p.Ala410Pro | |
| NM_001291940.1:c.7G>C | NP_001278869.1:p.Ala3Pro | |
| XM_005273141.3:c.1225G>C | XP_005273198.1:p.Ala409Pro | |
| XM_006711769.2:c.1228G>C | XP_006711832.1:p.Ala410Pro | |
| XM_006711770.1:c.292G>C | XP_006711833.1:p.Ala98Pro | |
| XM_011544193.1:c.1228G>C | XP_011542495.1:p.Ala410Pro | |
| XM_011544194.1:c.1396G>C | XP_011542496.1:p.Ala466Pro | |
| XM_005273141.5:c.1225G>C | XP_005273198.1:p.Ala409Pro | |
| XM_006711770.3:c.292G>C | XP_006711833.1:p.Ala98Pro | |
| XM_011544194.3:c.1396G>C | XP_011542496.1:p.Ala466Pro | |
| XM_017001329.2:c.1396G>C | XP_016856818.1:p.Ala466Pro | |
| XM_017001330.2:c.1396G>C | XP_016856819.1:p.Ala466Pro | |
| NM_001291940.2:c.7G>C | NP_001278869.1:p.Ala3Pro | |
| NM_000254.3:c.1228G>C MANE Select | NP_000245.2:p.Ala410Pro |