Linked Data
dbSNP Id:
rs28683050
gnomAD v2:
15-67378336-C-T
gnomAD v3:
15-67085998-C-T
gnomAD v4:
15-67085998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67085998C>T , CM000677.2:g.67085998C>T | GRCh38 |
| NC_000015.9:g.67378336C>T , CM000677.1:g.67378336C>T | GRCh37 |
| NC_000015.8:g.65165390C>T | NCBI36 |
| NG_011990.1:g.25142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559460.6:c.-110+22054C>T | ENSP00000453082.2:n.-110+22054C>T | |
| ENST00000560424.2:c.206+19638C>T | ENSP00000455540.2:n.206+19638C>T | |
| ENST00000327367.9:c.206+19638C>T MANE Select | ENSP00000332973.4:n.206+19638C>T | |
| ENST00000679624.1:c.-110+18085C>T | ENSP00000505445.1:n.-110+18085C>T | |
| ENST00000327367.8:c.206+19638C>T | ENSP00000332973.4:n.206+19638C>T | |
| ENST00000559460.5:c.-110+22054C>T | ENSP00000453082.1:n.-110+22054C>T | |
| ENST00000559937.1:n.56+7957C>T | ||
| NM_005902.3:c.206+19638C>T | NP_005893.1:n.206+19638C>T | |
| XM_011521559.1:c.206+19638C>T | XP_011519861.1:n.206+19638C>T | |
| XM_011521559.3:c.206+19638C>T | XP_011519861.1:n.206+19638C>T | |
| NM_005902.4:c.206+19638C>T MANE Select | NP_005893.1:n.206+19638C>T |