Linked Data
ClinVar Variation Id:
1167460
ClinVar RCV Id:
RCV001516680
dbSNP Id:
rs2241712
gnomAD v2:
19-41869756-C-T
gnomAD v3:
19-41363851-C-T
gnomAD v4:
19-41363851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41363851C>T , CM000681.2:g.41363851C>T | GRCh38 |
| NC_000019.9:g.41869756C>T , CM000681.1:g.41869756C>T | GRCh37 |
| NC_000019.8:g.46561596C>T | NCBI36 |
| NG_013091.1:g.5323G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243578.8:c.-5+107G>A (B9D2) MANE Select | ENSP00000243578.2:n.-5+107G>A | |
| ENST00000675972.1:c.-92G>A (B9D2) | ENSP00000501911.1:n.-92G>A | |
| ENST00000243578.7:c.-5+107G>A (B9D2) | ENSP00000243578.2:n.-5+107G>A | |
| ENST00000539627.5:c.-30+12649C>T (TMEM91) | ENSP00000441900.1:n.-30+12649C>T | |
| ENST00000594416.1:c.-5+107G>A (B9D2) | ENSP00000469666.1:n.-5+107G>A | |
| ENST00000601597.1:n.135+107G>A (B9D2) | ||
| ENST00000604123.5:c.142+9536C>T (TMEM91) | ENSP00000474871.1:n.142+9536C>T | |
| ENST00000604424.1:n.350+12649C>T | ||
| NM_030578.3:c.-5+107G>A (B9D2) | NP_085055.2:n.-5+107G>A | |
| XM_006723405.1:c.-5+107G>A (B9D2) | XP_006723468.1:n.-5+107G>A | |
| XM_011527349.1:c.-92G>A (B9D2) | XP_011525651.1:n.-92G>A | |
| XM_011527350.1:c.-72+107G>A (B9D2) | XP_011525652.1:n.-72+107G>A | |
| XM_011527349.2:c.-92G>A (B9D2) | XP_011525651.1:n.-92G>A | |
| XM_011527350.2:c.-72+107G>A (B9D2) | XP_011525652.1:n.-72+107G>A | |
| NM_030578.4:c.-5+107G>A (B9D2) MANE Select | NP_085055.2:n.-5+107G>A |