Linked Data
ClinVar Variation Id:
1989117
ClinVar RCV Id:
RCV002786347
dbSNP Id:
rs771318876
ExAC:
5:13692230 G / A
gnomAD v2:
5-13692230-G-A
gnomAD v3:
5-13692121-G-A
gnomAD v4:
5-13692121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692121G>A , CM000667.2:g.13692121G>A | GRCh38 |
| NC_000005.9:g.13692230G>A , CM000667.1:g.13692230G>A | GRCh37 |
| NC_000005.8:g.13745230G>A | NCBI36 |
| NG_013081.1:g.257360C>T | |
| NG_013081.2:g.257360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1071C>T | ||
| ENST00000265104.5:c.13738C>T MANE Select | ENSP00000265104.4:p.Arg4580Trp | |
| ENST00000681290.1:c.13693C>T | ENSP00000505288.1:p.Arg4565Trp | |
| ENST00000265104.4:c.13738C>T | ENSP00000265104.4:p.Arg4580Trp | |
| NM_001369.2:c.13738C>T | NP_001360.1:p.Arg4580Trp | |
| XM_005248262.2:c.13693C>T | XP_005248319.1:p.Arg4565Trp | |
| XM_005248262.3:c.13846C>T | XP_005248319.2:p.Arg4616Trp | |
| XM_017009177.1:c.13426C>T | XP_016864666.1:p.Arg4476Trp | |
| XM_017009178.1:c.12751C>T | XP_016864667.1:p.Arg4251Trp | |
| XM_017009179.2:c.12751C>T | XP_016864668.1:p.Arg4251Trp | |
| XM_017009185.1:c.8935C>T | XP_016864674.1:p.Arg2979Trp | |
| XM_017009186.1:c.8488C>T | XP_016864675.1:p.Arg2830Trp | |
| XM_017009188.1:c.7825C>T | XP_016864677.1:p.Arg2609Trp | |
| XM_024454388.1:c.12751C>T | XP_024310156.1:p.Arg4251Trp | |
| XM_024454389.1:c.12340C>T | XP_024310157.1:p.Arg4114Trp | |
| NM_001369.3:c.13738C>T MANE Select | NP_001360.1:p.Arg4580Trp |