Linked Data
ClinVar Variation Id:
17164
ClinVar RCV Id:
RCV000018704
RCV000149938
RCV000359356
RCV000302217
RCV000993564
RCV000859498
RCV003764600
RCV004532388
dbSNP Id:
rs117725825
ExAC:
21:47552201 C / T
gnomAD v2:
21-47552201-C-T
gnomAD v3:
21-46132287-C-T
gnomAD v4:
21-46132287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132287C>T , CM000683.2:g.46132287C>T | GRCh38 |
| NC_000021.8:g.47552201C>T , CM000683.1:g.47552201C>T | GRCh37 |
| NC_000021.7:g.46376629C>T | NCBI36 |
| NG_008675.1:g.39169C>T , LRG_476:g.39169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2795C>T MANE Select | ENSP00000300527.4:p.Pro932Leu | |
| ENST00000300527.8:c.2795C>T | ENSP00000300527.4:p.Pro932Leu | |
| NM_001849.3:c.2795C>T , LRG_476t1:c.2795C>T | NP_001840.3:p.Pro932Leu | |
| XM_011529451.1:c.2795C>T | XP_011527753.1:p.Pro932Leu | |
| XM_011529452.1:c.2795C>T | XP_011527754.1:p.Pro932Leu | |
| XR_937438.1:n.2872C>T | ||
| XR_937438.2:n.2879C>T | ||
| NM_001849.4:c.2795C>T MANE Select | NP_001840.3:p.Pro932Leu |