Linked Data
dbSNP Id:
rs756516282
ExAC:
22:20127468 C / T
gnomAD v2:
22-20127468-C-T
gnomAD v3:
22-20139945-C-T
gnomAD v4:
22-20139945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139945C>T , CM000684.2:g.20139945C>T | GRCh38 |
| NC_000022.10:g.20127468C>T , CM000684.1:g.20127468C>T | GRCh37 |
| NC_000022.9:g.18507468C>T | NCBI36 |
| NG_021420.1:g.13105C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334554.12:c.557+53C>T MANE Select | ENSP00000334490.7:n.557+53C>T | |
| ENST00000320602.11:c.384+310C>T | ENSP00000317804.7:n.384+310C>T | |
| ENST00000334554.11:c.557+53C>T | ENSP00000334490.7:n.557+53C>T | |
| ENST00000405930.3:c.557+53C>T | ENSP00000384716.3:n.557+53C>T | |
| ENST00000468112.5:n.58-672C>T | ||
| ENST00000469212.5:n.9C>T | ||
| NM_001185024.1:c.557+53C>T | NP_001171953.1:n.557+53C>T | |
| NM_013373.3:c.557+53C>T | NP_037505.1:n.557+53C>T | |
| XM_006724239.2:c.557+53C>T | XP_006724302.1:n.557+53C>T | |
| NM_001185024.2:c.557+53C>T | NP_001171953.1:n.557+53C>T | |
| NM_013373.4:c.557+53C>T MANE Select | NP_037505.1:n.557+53C>T |