Linked Data
dbSNP Id:
rs184348668
ExAC:
19:41860609 C / T
gnomAD v2:
19-41860609-C-T
gnomAD v3:
19-41354704-C-T
gnomAD v4:
19-41354704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41354704C>T , CM000681.2:g.41354704C>T | GRCh38 |
| NC_000019.9:g.41860609C>T , CM000681.1:g.41860609C>T | GRCh37 |
| NC_000019.8:g.46552449C>T | NCBI36 |
| NG_013091.1:g.14470G>A | |
| NG_013364.1:g.4223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.524G>A (B9D2) MANE Select | ENSP00000243578.2:p.Cys175Tyr | |
| ENST00000675972.1:c.524G>A (B9D2) | ENSP00000501911.1:p.Cys175Tyr | |
| ENST00000243578.7:c.524G>A (B9D2) | ENSP00000243578.2:p.Cys175Tyr | |
| ENST00000539627.5:c.-30+3502C>T (TMEM91) | ENSP00000441900.1:n.-30+3502C>T | |
| ENST00000594416.1:c.*370G>A (B9D2) | ENSP00000469666.1:n.*370G>A | |
| ENST00000604123.5:c.142+389C>T (TMEM91) | ENSP00000474871.1:n.142+389C>T | |
| ENST00000604424.1:n.350+3502C>T | ||
| NM_030578.3:c.524G>A (B9D2) | NP_085055.2:p.Cys175Tyr | |
| XM_006723405.1:c.398G>A (B9D2) | XP_006723468.1:p.Cys133Tyr | |
| XM_011527349.1:c.524G>A (B9D2) | XP_011525651.1:p.Cys175Tyr | |
| XM_011527350.1:c.365G>A (B9D2) | XP_011525652.1:p.Cys122Tyr | |
| XM_011527349.2:c.524G>A (B9D2) | XP_011525651.1:p.Cys175Tyr | |
| XM_011527350.2:c.365G>A (B9D2) | XP_011525652.1:p.Cys122Tyr | |
| NM_030578.4:c.524G>A (B9D2) MANE Select | NP_085055.2:p.Cys175Tyr |