Linked Data
ClinVar Variation Id:
188388
dbSNP Id:
rs769054713
ExAC:
5:13777418 G / A
gnomAD v2:
5-13777418-G-A
gnomAD v3:
5-13777309-G-A
gnomAD v4:
5-13777309-G-A
COSMIC:
COSM221461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13777309G>A , CM000667.2:g.13777309G>A | GRCh38 |
| NC_000005.9:g.13777418G>A , CM000667.1:g.13777418G>A | GRCh37 |
| NC_000005.8:g.13830418G>A | NCBI36 |
| NG_013081.1:g.172172C>T | |
| NG_013081.2:g.172172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8998C>T MANE Select | ENSP00000265104.4:p.Arg3000Ter | |
| ENST00000681290.1:c.8953C>T | ENSP00000505288.1:p.Arg2985Ter | |
| ENST00000265104.4:c.8998C>T | ENSP00000265104.4:p.Arg3000Ter | |
| NM_001369.2:c.8998C>T | NP_001360.1:p.Arg3000Ter | |
| XM_005248262.2:c.8953C>T | XP_005248319.1:p.Arg2985Ter | |
| XM_011513990.1:c.8998C>T | XP_011512292.1:p.Arg3000Ter | |
| XR_925598.1:n.9074C>T | ||
| XM_005248262.3:c.9106C>T | XP_005248319.2:p.Arg3036Ter | |
| XM_017009177.1:c.9106C>T | XP_016864666.1:p.Arg3036Ter | |
| XM_017009178.1:c.8011C>T | XP_016864667.1:p.Arg2671Ter | |
| XM_017009179.2:c.8011C>T | XP_016864668.1:p.Arg2671Ter | |
| XM_017009180.1:c.9106C>T | XP_016864669.1:p.Arg3036Ter | |
| XM_017009181.1:c.9106C>T | XP_016864670.1:p.Arg3036Ter | |
| XM_017009182.1:c.9106C>T | XP_016864671.1:p.Arg3036Ter | |
| XM_017009183.1:c.9106C>T | XP_016864672.1:p.Arg3036Ter | |
| XM_017009184.1:c.9106C>T | XP_016864673.1:p.Arg3036Ter | |
| XM_017009185.1:c.4195C>T | XP_016864674.1:p.Arg1399Ter | |
| XM_017009186.1:c.3748C>T | XP_016864675.1:p.Arg1250Ter | |
| XM_017009188.1:c.3085C>T | XP_016864677.1:p.Arg1029Ter | |
| XM_024454388.1:c.8011C>T | XP_024310156.1:p.Arg2671Ter | |
| XM_024454389.1:c.7600C>T | XP_024310157.1:p.Arg2534Ter | |
| XR_001742034.1:n.8992C>T | ||
| XR_001742035.1:n.8992C>T | ||
| NM_001369.3:c.8998C>T MANE Select | NP_001360.1:p.Arg3000Ter |