Linked Data
dbSNP Id:
rs2885805
gnomAD v2:
1-111417915-C-A
gnomAD v3:
1-110875293-C-A
gnomAD v4:
1-110875293-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110875293C>A , CM000663.2:g.110875293C>A | GRCh38 |
| NC_000001.10:g.111417915C>A , CM000663.1:g.111417915C>A | GRCh37 |
| NC_000001.9:g.111219438C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271324.6:c.-18+2045C>A MANE Select | ENSP00000271324.5:n.-18+2045C>A | |
| ENST00000648608.1:c.-18+2045C>A | ENSP00000497382.1:n.-18+2045C>A | |
| ENST00000271324.5:c.-18+2045C>A | ENSP00000271324.5:n.-18+2045C>A | |
| ENST00000471220.5:n.66+2045C>A | ||
| NM_000560.3:c.-18+2045C>A | NP_000551.1:n.-18+2045C>A | |
| NM_001040033.1:c.-18+2045C>A | NP_001035122.1:n.-18+2045C>A | |
| XM_006711053.2:c.-18+2045C>A | XP_006711116.1:n.-18+2045C>A | |
| XM_011542447.1:c.-18+2045C>A | XP_011540749.1:n.-18+2045C>A | |
| NM_001320638.1:c.-18+2045C>A | NP_001307567.1:n.-18+2045C>A | |
| XM_024451057.1:c.-894+2045C>A | XP_024306825.1:n.-894+2045C>A | |
| NM_000560.4:c.-18+2045C>A MANE Select | NP_000551.1:n.-18+2045C>A | |
| NM_001040033.2:c.-18+2045C>A | NP_001035122.1:n.-18+2045C>A | |
| NM_001320638.2:c.-18+2045C>A | NP_001307567.1:n.-18+2045C>A |