Linked Data
dbSNP Id:
rs2269475
ExAC:
6:31583931 C / T
gnomAD v2:
6-31583931-C-T
gnomAD v3:
6-31616154-C-T
gnomAD v4:
6-31616154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616154C>T , CM000668.2:g.31616154C>T | GRCh38 |
| NC_000006.11:g.31583931C>T , CM000668.1:g.31583931C>T | GRCh37 |
| NC_000006.10:g.31691910C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376059.8:c.196+9C>T MANE Select | ENSP00000365227.3:n.196+9C>T | |
| ENST00000337917.11:c.238+9C>T | ENSP00000338776.7:n.238+9C>T | |
| ENST00000376049.4:c.34+9C>T | ENSP00000365217.4:n.34+9C>T | |
| ENST00000376059.7:c.196+9C>T | ENSP00000365227.3:n.196+9C>T | |
| ENST00000466820.1:n.622C>T | ||
| ENST00000497362.5:n.624C>T | ||
| NM_001623.3:c.196+9C>T | NP_001614.3:n.196+9C>T | |
| NM_004847.3:c.43C>T | NP_004838.1:p.Arg15Trp | |
| NM_032955.1:c.34+9C>T | NP_116573.1:n.34+9C>T | |
| XM_005248870.3:c.205C>T | XP_005248927.1:p.Arg69Trp | |
| XM_005248871.1:c.259+9C>T | XP_005248928.1:n.259+9C>T | |
| NM_001318970.1:c.34+9C>T | NP_001305899.1:n.34+9C>T | |
| NM_001623.4:c.196+9C>T | NP_001614.3:n.196+9C>T | |
| NM_032955.2:c.34+9C>T | NP_116573.1:n.34+9C>T | |
| XM_005248870.4:c.205C>T | XP_005248927.1:p.Arg69Trp | |
| XM_017010332.1:c.43C>T | XP_016865821.1:p.Arg15Trp | |
| NM_001623.5:c.196+9C>T MANE Select | NP_001614.3:n.196+9C>T | |
| NM_001318970.2:c.34+9C>T | NP_001305899.1:n.34+9C>T | |
| NM_032955.3:c.34+9C>T | NP_116573.1:n.34+9C>T |