Linked Data
ClinVar Variation Id:
2513955
ClinVar RCV Id:
RCV004293458
dbSNP Id:
rs777795126
ExAC:
1:154437710 A / C
gnomAD v2:
1-154437710-A-C
gnomAD v4:
1-154465234-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465234A>C , CM000663.2:g.154465234A>C | GRCh38 |
| NC_000001.10:g.154437710A>C , CM000663.1:g.154437710A>C | GRCh37 |
| NC_000001.9:g.152704334A>C | NCBI36 |
| NG_012087.1:g.65042A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1261A>C MANE Select | ENSP00000357470.3:p.Thr421Pro | |
| ENST00000344086.8:c.*69A>C | ENSP00000340589.4:n.*69A>C | |
| ENST00000368485.7:c.1261A>C | ENSP00000357470.3:p.Thr421Pro | |
| ENST00000502679.1:n.574A>C | ||
| ENST00000507256.1:n.459A>C | ||
| NM_000565.3:c.1261A>C | NP_000556.1:p.Thr421Pro | |
| NM_181359.2:c.*69A>C | NP_852004.1:n.*69A>C | |
| XM_005245139.1:c.1025A>C | XP_005245196.1:p.His342Pro | |
| XM_005245140.1:c.*102A>C | XP_005245197.1:n.*102A>C | |
| XM_006711298.1:c.1309A>C | XP_006711361.1:p.Thr437Pro | |
| XM_006711299.2:c.*69A>C | XP_006711362.1:n.*69A>C | |
| XM_005245139.2:c.1025A>C | XP_005245196.1:p.His342Pro | |
| XM_005245140.3:c.*102A>C | XP_005245197.1:n.*102A>C | |
| XM_006711298.2:c.1309A>C | XP_006711361.1:p.Thr437Pro | |
| XM_006711299.4:c.*69A>C | XP_006711362.1:n.*69A>C | |
| XM_017001199.2:c.1408A>C | XP_016856688.1:p.Thr470Pro | |
| XM_017001200.2:c.1360A>C | XP_016856689.1:p.Thr454Pro | |
| XM_017001201.2:c.*102A>C | XP_016856690.1:n.*102A>C | |
| NM_000565.4:c.1261A>C MANE Select | NP_000556.1:p.Thr421Pro | |
| NM_181359.3:c.*69A>C | NP_852004.1:n.*69A>C | |
| NM_001382769.1:c.1360A>C | NP_001369698.1:p.Thr454Pro | |
| NM_001382770.1:c.1354A>C | NP_001369699.1:p.Thr452Pro | |
| NM_001382771.1:c.1309A>C | NP_001369700.1:p.Thr437Pro | |
| NM_001382772.1:c.1255A>C | NP_001369701.1:p.Thr419Pro | |
| NM_001382773.1:c.*69A>C | NP_001369702.1:n.*69A>C | |
| NM_001382774.1:c.901A>C | NP_001369703.1:p.Thr301Pro |