Linked Data
dbSNP Id:
rs1447826274
gnomAD v2:
15-74632191-C-T
gnomAD v3:
15-74339850-C-T
gnomAD v4:
15-74339850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339850C>T , CM000677.2:g.74339850C>T | GRCh38 |
| NC_000015.9:g.74632191C>T , CM000677.1:g.74632191C>T | GRCh37 |
| NC_000015.8:g.72419244C>T | NCBI36 |
| NG_007973.1:g.32892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.991-97G>A MANE Select | ENSP00000268053.6:n.991-97G>A | |
| ENST00000268053.10:c.991-97G>A | ENSP00000268053.6:n.991-97G>A | |
| ENST00000358632.8:c.517-97G>A | ENSP00000351455.4:n.517-97G>A | |
| ENST00000435365.5:c.991-97G>A | ENSP00000391081.1:n.991-97G>A | |
| ENST00000566674.5:c.517-97G>A | ENSP00000456941.1:n.517-97G>A | |
| NM_000781.2:c.991-97G>A | NP_000772.2:n.991-97G>A | |
| NM_001099773.1:c.517-97G>A | NP_001093243.1:n.517-97G>A | |
| NM_000781.3:c.991-97G>A MANE Select | NP_000772.2:n.991-97G>A | |
| NM_001099773.2:c.517-97G>A | NP_001093243.1:n.517-97G>A |