Linked Data
ClinVar Variation Id:
1198490
ClinVar RCV Id:
RCV001562667
dbSNP Id:
rs114464494
gnomAD v2:
13-49038989-T-C
gnomAD v3:
13-48464853-T-C
gnomAD v4:
13-48464853-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48464853T>C , CM000675.2:g.48464853T>C | GRCh38 |
| NC_000013.10:g.49038989T>C , CM000675.1:g.49038989T>C | GRCh37 |
| NC_000013.9:g.47936990T>C | NCBI36 |
| NG_009009.1:g.166107T>C , LRG_517:g.166107T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2212-145T>C MANE Select | ENSP00000267163.4:n.2212-145T>C | |
| ENST00000643064.1:c.194+83410T>C | ||
| ENST00000650461.1:c.2212-145T>C | ENSP00000497193.1:n.2212-145T>C | |
| ENST00000267163.4:c.2212-145T>C | ENSP00000267163.4:n.2212-145T>C | |
| NM_000321.2:c.2212-145T>C , LRG_517t1:c.2212-145T>C | NP_000312.2:n.2212-145T>C | |
| XM_011535171.1:c.1951-145T>C | XP_011533473.1:n.1951-145T>C | |
| XM_011535171.2:c.1951-145T>C | XP_011533473.1:n.1951-145T>C | |
| NM_000321.3:c.2212-145T>C MANE Select | NP_000312.2:n.2212-145T>C |