Linked Data
dbSNP Id:
rs775954214
gnomAD v2:
14-91772052-G-A
gnomAD v3:
14-91305708-G-A
gnomAD v4:
14-91305708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305708G>A , CM000676.2:g.91305708G>A | GRCh38 |
| NC_000014.8:g.91772052G>A , CM000676.1:g.91772052G>A | GRCh37 |
| NC_000014.7:g.90841805G>A | NCBI36 |
| NG_033118.1:g.117137C>T | |
| NG_033118.2:g.117137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.3357+57C>T MANE Select | ENSP00000374507.6:n.3357+57C>T | |
| ENST00000389857.10:c.3357+57C>T | ENSP00000374507.6:n.3357+57C>T | |
| NM_001080414.3:c.3357+57C>T | NP_001073883.2:n.3357+57C>T | |
| XM_005267691.3:c.3357+57C>T | XP_005267748.1:n.3357+57C>T | |
| XM_011536796.1:c.3249+57C>T | XP_011535098.1:n.3249+57C>T | |
| XR_429316.2:n.3485+57C>T | ||
| XR_943459.1:n.3485+57C>T | ||
| XM_005267691.5:c.3357+57C>T | XP_005267748.1:n.3357+57C>T | |
| XM_011536796.2:c.3249+57C>T | XP_011535098.1:n.3249+57C>T | |
| XM_017021335.2:c.3357+57C>T | XP_016876824.1:n.3357+57C>T | |
| XM_017021336.1:c.438+57C>T | XP_016876825.1:n.438+57C>T | |
| XR_429316.4:n.3483+57C>T | ||
| NM_001080414.4:c.3357+57C>T MANE Select | NP_001073883.2:n.3357+57C>T |