Linked Data
dbSNP Id:
rs903577679
gnomAD v2:
12-117795883-C-T
gnomAD v3:
12-117358078-C-T
gnomAD v4:
12-117358078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117358078C>T , CM000674.2:g.117358078C>T | GRCh38 |
| NC_000012.11:g.117795883C>T , CM000674.1:g.117795883C>T | GRCh37 |
| NC_000012.10:g.116280266C>T | NCBI36 |
| NG_011991.2:g.8700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317775.11:c.-421+3434G>A MANE Select | ENSP00000320758.6:n.-421+3434G>A | |
| ENST00000317775.10:c.-421+3434G>A | ENSP00000320758.6:n.-421+3434G>A | |
| ENST00000477584.1:n.118+3434G>A | ||
| ENST00000549189.1:n.471-26589G>A | ||
| ENST00000618760.4:c.-421+3434G>A | ENSP00000477999.1:n.-421+3434G>A | |
| NM_000620.4:c.-421+3434G>A | NP_000611.1:n.-421+3434G>A | |
| NM_001204218.1:c.-421+3434G>A | NP_001191147.1:n.-421+3434G>A | |
| XM_011538398.1:c.-421+913G>A | XP_011536700.1:n.-421+913G>A | |
| NM_000620.5:c.-421+3434G>A MANE Select | NP_000611.1:n.-421+3434G>A | |
| NM_001204218.2:c.-421+3434G>A | NP_001191147.1:n.-421+3434G>A |