Linked Data
dbSNP Id:
rs7141928
gnomAD v2:
14-104219949-C-T
gnomAD v3:
14-103753612-C-T
gnomAD v4:
14-103753612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103753612C>T , CM000676.2:g.103753612C>T | GRCh38 |
| NC_000014.8:g.104219949C>T , CM000676.1:g.104219949C>T | GRCh37 |
| NC_000014.7:g.103289702C>T | NCBI36 |
| NG_046915.1:g.100356G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000202556.14:c.632-416G>A MANE Select | ENSP00000202556.9:n.632-416G>A | |
| ENST00000647748.1:c.587-416G>A | ENSP00000497343.1:n.587-416G>A | |
| ENST00000202556.13:c.632-416G>A | ENSP00000202556.9:n.632-416G>A | |
| ENST00000556325.1:n.35-13549G>A | ||
| ENST00000557082.5:c.*877-416G>A | ENSP00000451396.1:n.*877-416G>A | |
| NM_015316.2:c.632-416G>A | NP_056131.2:n.632-416G>A | |
| XM_005267487.3:c.836-416G>A | XP_005267544.1:n.836-416G>A | |
| XM_011536592.1:c.836-416G>A | XP_011534894.1:n.836-416G>A | |
| XM_011536593.1:c.836-416G>A | XP_011534895.1:n.836-416G>A | |
| XM_011536594.1:c.836-416G>A | XP_011534896.1:n.836-416G>A | |
| XM_011536595.1:c.632-416G>A | XP_011534897.1:n.632-416G>A | |
| XM_011536596.1:c.623-416G>A | XP_011534898.1:n.623-416G>A | |
| XM_011536597.1:c.623-416G>A | XP_011534899.1:n.623-416G>A | |
| XR_245676.2:n.1319-416G>A | ||
| XR_943410.1:n.1319-416G>A | ||
| XR_943411.1:n.1319-416G>A | ||
| XR_943412.1:n.1319-416G>A | ||
| XR_943413.1:n.1319-416G>A | ||
| XM_005267487.5:c.836-416G>A | XP_005267544.1:n.836-416G>A | |
| XM_011536593.3:c.836-416G>A | XP_011534895.1:n.836-416G>A | |
| XM_017021116.1:c.632-416G>A | XP_016876605.1:n.632-416G>A | |
| XM_017021117.1:c.623-416G>A | XP_016876606.1:n.623-416G>A | |
| XR_001750204.2:n.1679-416G>A | ||
| XR_001750205.2:n.1679-416G>A | ||
| XR_001750206.2:n.1679-416G>A | ||
| XR_245676.4:n.1679-416G>A | ||
| XR_943413.3:n.1679-416G>A | ||
| NM_015316.3:c.632-416G>A MANE Select | NP_056131.2:n.632-416G>A |