Linked Data
ClinVar Variation Id:
217556
dbSNP Id:
rs750436680
ExAC:
19:41860670 C / T
gnomAD v2:
19-41860670-C-T
gnomAD v4:
19-41354765-C-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41354765C>T , CM000681.2:g.41354765C>T | GRCh38 |
| NC_000019.9:g.41860670C>T , CM000681.1:g.41860670C>T | GRCh37 |
| NC_000019.8:g.46552510C>T | NCBI36 |
| NG_013091.1:g.14409G>A | |
| NG_013364.1:g.4162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.463G>A (B9D2) MANE Select | ENSP00000243578.2:p.Gly155Ser | |
| ENST00000675972.1:c.463G>A (B9D2) | ENSP00000501911.1:p.Gly155Ser | |
| ENST00000243578.7:c.463G>A (B9D2) | ENSP00000243578.2:p.Gly155Ser | |
| ENST00000539627.5:c.-30+3563C>T (TMEM91) | ENSP00000441900.1:n.-30+3563C>T | |
| ENST00000594416.1:c.*309G>A (B9D2) | ENSP00000469666.1:n.*309G>A | |
| ENST00000604123.5:c.142+450C>T (TMEM91) | ENSP00000474871.1:n.142+450C>T | |
| ENST00000604424.1:n.350+3563C>T | ||
| NM_030578.3:c.463G>A (B9D2) | NP_085055.2:p.Gly155Ser | |
| XM_006723405.1:c.337G>A (B9D2) | XP_006723468.1:p.Gly113Ser | |
| XM_011527349.1:c.463G>A (B9D2) | XP_011525651.1:p.Gly155Ser | |
| XM_011527350.1:c.304G>A (B9D2) | XP_011525652.1:p.Gly102Ser | |
| XM_011527349.2:c.463G>A (B9D2) | XP_011525651.1:p.Gly155Ser | |
| XM_011527350.2:c.304G>A (B9D2) | XP_011525652.1:p.Gly102Ser | |
| NM_030578.4:c.463G>A (B9D2) MANE Select | NP_085055.2:p.Gly155Ser |