Linked Data
ClinVar Variation Id:
381547
dbSNP Id:
rs576096758
ExAC:
5:13735418 G / T
gnomAD v2:
5-13735418-G-T
gnomAD v3:
5-13735309-G-T
gnomAD v4:
5-13735309-G-T
COSMIC:
COSM3236857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735309G>T , CM000667.2:g.13735309G>T | GRCh38 |
| NC_000005.9:g.13735418G>T , CM000667.1:g.13735418G>T | GRCh37 |
| NC_000005.8:g.13788418G>T | NCBI36 |
| NG_013081.1:g.214172C>A | |
| NG_013081.2:g.214172C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11583C>A MANE Select | ENSP00000265104.4:p.Ser3861Arg | |
| ENST00000681290.1:c.11538C>A | ENSP00000505288.1:p.Ser3846Arg | |
| ENST00000265104.4:c.11583C>A | ENSP00000265104.4:p.Ser3861Arg | |
| NM_001369.2:c.11583C>A | NP_001360.1:p.Ser3861Arg | |
| XM_005248262.2:c.11538C>A | XP_005248319.1:p.Ser3846Arg | |
| XM_005248262.3:c.11691C>A | XP_005248319.2:p.Ser3897Arg | |
| XM_017009177.1:c.11691C>A | XP_016864666.1:p.Ser3897Arg | |
| XM_017009178.1:c.10596C>A | XP_016864667.1:p.Ser3532Arg | |
| XM_017009179.2:c.10596C>A | XP_016864668.1:p.Ser3532Arg | |
| XM_017009180.1:c.11691C>A | XP_016864669.1:p.Ser3897Arg | |
| XM_017009181.1:c.11691C>A | XP_016864670.1:p.Ser3897Arg | |
| XM_017009182.1:c.*17C>A | XP_016864671.1:n.*17C>A | |
| XM_017009185.1:c.6780C>A | XP_016864674.1:p.Ser2260Arg | |
| XM_017009186.1:c.6333C>A | XP_016864675.1:p.Ser2111Arg | |
| XM_017009188.1:c.5670C>A | XP_016864677.1:p.Ser1890Arg | |
| XM_024454388.1:c.10596C>A | XP_024310156.1:p.Ser3532Arg | |
| XM_024454389.1:c.10185C>A | XP_024310157.1:p.Ser3395Arg | |
| NM_001369.3:c.11583C>A MANE Select | NP_001360.1:p.Ser3861Arg |