Linked Data
ClinVar Variation Id:
3132734
ClinVar RCV Id:
RCV004423644
dbSNP Id:
rs369719890
ExAC:
19:41869393 A / G
gnomAD v2:
19-41869393-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41363488A>G , CM000681.2:g.41363488A>G | GRCh38 |
| NC_000019.9:g.41869393A>G , CM000681.1:g.41869393A>G | GRCh37 |
| NC_000019.8:g.46561233A>G | NCBI36 |
| NG_013091.1:g.5686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.32T>C (B9D2) MANE Select | ENSP00000243578.2:p.Ile11Thr | |
| ENST00000675972.1:c.32T>C (B9D2) | ENSP00000501911.1:p.Ile11Thr | |
| ENST00000243578.7:c.32T>C (B9D2) | ENSP00000243578.2:p.Ile11Thr | |
| ENST00000539627.5:c.-30+12286A>G (TMEM91) | ENSP00000441900.1:n.-30+12286A>G | |
| ENST00000594416.1:c.32T>C (B9D2) | ENSP00000469666.1:p.Ile11Thr | |
| ENST00000601597.1:n.171T>C (B9D2) | ||
| ENST00000604123.5:c.142+9173A>G (TMEM91) | ENSP00000474871.1:n.142+9173A>G | |
| ENST00000604424.1:n.350+12286A>G | ||
| NM_030578.3:c.32T>C (B9D2) | NP_085055.2:p.Ile11Thr | |
| XM_006723405.1:c.32T>C (B9D2) | XP_006723468.1:p.Ile11Thr | |
| XM_011527349.1:c.32T>C (B9D2) | XP_011525651.1:p.Ile11Thr | |
| XM_011527350.1:c.-72+470T>C (B9D2) | XP_011525652.1:n.-72+470T>C | |
| XM_011527349.2:c.32T>C (B9D2) | XP_011525651.1:p.Ile11Thr | |
| XM_011527350.2:c.-72+470T>C (B9D2) | XP_011525652.1:n.-72+470T>C | |
| NM_030578.4:c.32T>C (B9D2) MANE Select | NP_085055.2:p.Ile11Thr |