Linked Data
ClinVar Variation Id:
940826
ClinVar RCV Id:
RCV001210491
dbSNP Id:
rs200501806
ExAC:
13:49033818 C / A
gnomAD v2:
13-49033818-C-A
gnomAD v4:
13-48459682-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459682C>A , CM000675.2:g.48459682C>A | GRCh38 |
| NC_000013.10:g.49033818C>A , CM000675.1:g.49033818C>A | GRCh37 |
| NC_000013.9:g.47931819C>A | NCBI36 |
| NG_009009.1:g.160936C>A , LRG_517:g.160936C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1961-6C>A MANE Select | ENSP00000267163.4:n.1961-6C>A | |
| ENST00000643064.1:c.194+78239C>A | ||
| ENST00000650461.1:c.1961-6C>A | ENSP00000497193.1:n.1961-6C>A | |
| ENST00000267163.4:c.1961-6C>A | ENSP00000267163.4:n.1961-6C>A | |
| NM_000321.2:c.1961-6C>A , LRG_517t1:c.1961-6C>A | NP_000312.2:n.1961-6C>A | |
| XM_011535171.1:c.1700-6C>A | XP_011533473.1:n.1700-6C>A | |
| XM_011535171.2:c.1700-6C>A | XP_011533473.1:n.1700-6C>A | |
| NM_000321.3:c.1961-6C>A MANE Select | NP_000312.2:n.1961-6C>A |