Linked Data
ClinVar Variation Id:
217557
dbSNP Id:
rs757863670
ExAC:
19:41863909 A / G
gnomAD v2:
19-41863909-A-G
gnomAD v4:
19-41358004-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41358004A>G , CM000681.2:g.41358004A>G | GRCh38 |
| NC_000019.9:g.41863909A>G , CM000681.1:g.41863909A>G | GRCh37 |
| NC_000019.8:g.46555749A>G | NCBI36 |
| NG_013091.1:g.11170T>C | |
| NG_013364.1:g.923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.107T>C (B9D2) MANE Select | ENSP00000243578.2:p.Leu36Pro | |
| ENST00000675972.1:c.107T>C (B9D2) | ENSP00000501911.1:p.Leu36Pro | |
| ENST00000243578.7:c.107T>C (B9D2) | ENSP00000243578.2:p.Leu36Pro | |
| ENST00000539627.5:c.-30+6802A>G (TMEM91) | ENSP00000441900.1:n.-30+6802A>G | |
| ENST00000594416.1:c.202T>C (B9D2) | ENSP00000469666.1:p.Cys68Arg | |
| ENST00000604123.5:c.142+3689A>G (TMEM91) | ENSP00000474871.1:n.142+3689A>G | |
| ENST00000604424.1:n.350+6802A>G | ||
| NM_030578.3:c.107T>C (B9D2) | NP_085055.2:p.Leu36Pro | |
| XM_006723405.1:c.89-2991T>C (B9D2) | XP_006723468.1:n.89-2991T>C | |
| XM_011527349.1:c.107T>C (B9D2) | XP_011525651.1:p.Leu36Pro | |
| XM_011527350.1:c.-53T>C (B9D2) | XP_011525652.1:n.-53T>C | |
| XM_011527349.2:c.107T>C (B9D2) | XP_011525651.1:p.Leu36Pro | |
| XM_011527350.2:c.-53T>C (B9D2) | XP_011525652.1:n.-53T>C | |
| NM_030578.4:c.107T>C (B9D2) MANE Select | NP_085055.2:p.Leu36Pro |