Linked Data
dbSNP Id:
rs1220473588
gnomAD v2:
14-91745779-G-C
gnomAD v3:
14-91279435-G-C
gnomAD v4:
14-91279435-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279435G>C , CM000676.2:g.91279435G>C | GRCh38 |
| NC_000014.8:g.91745779G>C , CM000676.1:g.91745779G>C | GRCh37 |
| NC_000014.7:g.90815532G>C | NCBI36 |
| NG_033118.1:g.143410C>G | |
| NG_033118.2:g.143410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4700-129C>G MANE Select | ENSP00000374507.6:n.4700-129C>G | |
| ENST00000331194.8:c.272-129C>G | ENSP00000330332.8:n.272-129C>G | |
| ENST00000334448.5:n.512-129C>G | ||
| ENST00000389857.10:c.4700-129C>G | ENSP00000374507.6:n.4700-129C>G | |
| ENST00000556726.5:c.928-129C>G | ||
| ENST00000557455.1:n.543C>G | ||
| NM_001080414.3:c.4700-129C>G | NP_001073883.2:n.4700-129C>G | |
| XM_011536796.1:c.4592-129C>G | XP_011535098.1:n.4592-129C>G | |
| XR_429316.2:n.4975-129C>G | ||
| XR_943459.1:n.5454C>G | ||
| XM_011536796.2:c.4592-129C>G | XP_011535098.1:n.4592-129C>G | |
| XM_017021335.2:c.*445C>G | XP_016876824.1:n.*445C>G | |
| XM_017021336.1:c.1781-129C>G | XP_016876825.1:n.1781-129C>G | |
| XR_429316.4:n.4973-129C>G | ||
| NM_001080414.4:c.4700-129C>G MANE Select | NP_001073883.2:n.4700-129C>G |