Linked Data
ClinVar Variation Id:
228606
dbSNP Id:
rs140948493
ExAC:
5:13737379 G / A
gnomAD v2:
5-13737379-G-A
gnomAD v3:
5-13737270-G-A
gnomAD v4:
5-13737270-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13737270G>A , CM000667.2:g.13737270G>A | GRCh38 |
| NC_000005.9:g.13737379G>A , CM000667.1:g.13737379G>A | GRCh37 |
| NC_000005.8:g.13790379G>A | NCBI36 |
| NG_013081.1:g.212211C>T | |
| NG_013081.2:g.212211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11437C>T MANE Select | ENSP00000265104.4:p.Arg3813Trp | |
| ENST00000681290.1:c.11392C>T | ENSP00000505288.1:p.Arg3798Trp | |
| ENST00000265104.4:c.11437C>T | ENSP00000265104.4:p.Arg3813Trp | |
| NM_001369.2:c.11437C>T | NP_001360.1:p.Arg3813Trp | |
| XM_005248262.2:c.11392C>T | XP_005248319.1:p.Arg3798Trp | |
| XM_005248262.3:c.11545C>T | XP_005248319.2:p.Arg3849Trp | |
| XM_017009177.1:c.11545C>T | XP_016864666.1:p.Arg3849Trp | |
| XM_017009178.1:c.10450C>T | XP_016864667.1:p.Arg3484Trp | |
| XM_017009179.2:c.10450C>T | XP_016864668.1:p.Arg3484Trp | |
| XM_017009180.1:c.11545C>T | XP_016864669.1:p.Arg3849Trp | |
| XM_017009181.1:c.11545C>T | XP_016864670.1:p.Arg3849Trp | |
| XM_017009182.1:c.11320-1338C>T | XP_016864671.1:n.11320-1338C>T | |
| XM_017009185.1:c.6634C>T | XP_016864674.1:p.Arg2212Trp | |
| XM_017009186.1:c.6187C>T | XP_016864675.1:p.Arg2063Trp | |
| XM_017009188.1:c.5524C>T | XP_016864677.1:p.Arg1842Trp | |
| XM_024454388.1:c.10450C>T | XP_024310156.1:p.Arg3484Trp | |
| XM_024454389.1:c.10039C>T | XP_024310157.1:p.Arg3347Trp | |
| NM_001369.3:c.11437C>T MANE Select | NP_001360.1:p.Arg3813Trp |