Linked Data
ClinVar Variation Id:
454745
ClinVar RCV Id:
RCV000535071
dbSNP Id:
rs1161303371
gnomAD v4:
5-13700730-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13700730A>G , CM000667.2:g.13700730A>G | GRCh38 |
| NC_000005.9:g.13700839A>G , CM000667.1:g.13700839A>G | GRCh37 |
| NC_000005.8:g.13753839A>G | NCBI36 |
| NG_013081.1:g.248751T>C | |
| NG_013081.2:g.248751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.966T>C | ||
| ENST00000265104.5:c.13633T>C MANE Select | ENSP00000265104.4:p.Trp4545Arg | |
| ENST00000681290.1:c.13588T>C | ENSP00000505288.1:p.Trp4530Arg | |
| ENST00000265104.4:c.13633T>C | ENSP00000265104.4:p.Trp4545Arg | |
| NM_001369.2:c.13633T>C | NP_001360.1:p.Trp4545Arg | |
| XM_005248262.2:c.13588T>C | XP_005248319.1:p.Trp4530Arg | |
| XM_005248262.3:c.13741T>C | XP_005248319.2:p.Trp4581Arg | |
| XM_017009177.1:c.13321T>C | XP_016864666.1:p.Trp4441Arg | |
| XM_017009178.1:c.12646T>C | XP_016864667.1:p.Trp4216Arg | |
| XM_017009179.2:c.12646T>C | XP_016864668.1:p.Trp4216Arg | |
| XM_017009185.1:c.8830T>C | XP_016864674.1:p.Trp2944Arg | |
| XM_017009186.1:c.8383T>C | XP_016864675.1:p.Trp2795Arg | |
| XM_017009188.1:c.7720T>C | XP_016864677.1:p.Trp2574Arg | |
| XM_024454388.1:c.12646T>C | XP_024310156.1:p.Trp4216Arg | |
| XM_024454389.1:c.12235T>C | XP_024310157.1:p.Trp4079Arg | |
| NM_001369.3:c.13633T>C MANE Select | NP_001360.1:p.Trp4545Arg |