Linked Data
dbSNP Id:
rs748954203
gnomAD v2:
17-11250298-T-A
gnomAD v3:
17-11346981-T-A
gnomAD v4:
17-11346981-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.11346981T>A , CM000679.2:g.11346981T>A | GRCh38 |
| NC_000017.10:g.11250298T>A , CM000679.1:g.11250298T>A | GRCh37 |
| NC_000017.9:g.11191023T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441885.8:c.800-32433T>A MANE Select | ENSP00000390084.3:n.800-32433T>A | |
| ENST00000343478.7:c.282-32433T>A | ||
| ENST00000409168.7:c.799+83455T>A | ENSP00000387157.3:n.799+83455T>A | |
| ENST00000432116.7:c.800-32433T>A | ENSP00000388659.3:n.800-32433T>A | |
| ENST00000441885.7:c.800-32433T>A | ENSP00000390084.3:n.800-32433T>A | |
| NM_001173461.1:c.799+83455T>A | NP_001166932.1:n.799+83455T>A | |
| NM_001173462.1:c.800-32433T>A | NP_001166933.1:n.800-32433T>A | |
| NM_207386.3:c.800-32433T>A | NP_997269.2:n.800-32433T>A | |
| XM_011523837.1:c.800-32433T>A | XP_011522139.1:n.800-32433T>A | |
| XM_017024618.1:c.799+83455T>A | XP_016880107.1:n.799+83455T>A | |
| NM_001173462.2:c.800-32433T>A | NP_001166933.1:n.800-32433T>A | |
| NM_207386.4:c.800-32433T>A MANE Select | NP_997269.2:n.800-32433T>A |