Linked Data
ClinVar Variation Id:
772984
ClinVar RCV Id:
RCV001477693
dbSNP Id:
rs371894780
gnomAD v3:
13-48459681-C-T
gnomAD v4:
13-48459681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459681C>T , CM000675.2:g.48459681C>T | GRCh38 |
| NC_000013.10:g.49033817C>T , CM000675.1:g.49033817C>T | GRCh37 |
| NC_000013.9:g.47931818C>T | NCBI36 |
| NG_009009.1:g.160935C>T , LRG_517:g.160935C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1961-7C>T MANE Select | ENSP00000267163.4:n.1961-7C>T | |
| ENST00000643064.1:c.194+78238C>T | ||
| ENST00000650461.1:c.1961-7C>T | ENSP00000497193.1:n.1961-7C>T | |
| ENST00000267163.4:c.1961-7C>T | ENSP00000267163.4:n.1961-7C>T | |
| NM_000321.2:c.1961-7C>T , LRG_517t1:c.1961-7C>T | NP_000312.2:n.1961-7C>T | |
| XM_011535171.1:c.1700-7C>T | XP_011533473.1:n.1700-7C>T | |
| XM_011535171.2:c.1700-7C>T | XP_011533473.1:n.1700-7C>T | |
| NM_000321.3:c.1961-7C>T MANE Select | NP_000312.2:n.1961-7C>T |