Linked Data
ClinVar Variation Id:
1396647
dbSNP Id:
rs374086061
ExAC:
5:13901374 G / A
gnomAD v2:
5-13901374-G-A
gnomAD v3:
5-13901265-G-A
gnomAD v4:
5-13901265-G-A
COSMIC:
COSM3238115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13901265G>A , CM000667.2:g.13901265G>A | GRCh38 |
| NC_000005.9:g.13901374G>A , CM000667.1:g.13901374G>A | GRCh37 |
| NC_000005.8:g.13954374G>A | NCBI36 |
| NG_013081.1:g.48216C>T | |
| NG_013081.2:g.48216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2039C>T MANE Select | ENSP00000265104.4:p.Ala680Val | |
| ENST00000681290.1:c.1994C>T | ENSP00000505288.1:p.Ala665Val | |
| ENST00000265104.4:c.2039C>T | ENSP00000265104.4:p.Ala680Val | |
| NM_001369.2:c.2039C>T | NP_001360.1:p.Ala680Val | |
| XM_005248262.2:c.1994C>T | XP_005248319.1:p.Ala665Val | |
| XM_011513990.1:c.2039C>T | XP_011512292.1:p.Ala680Val | |
| XR_925598.1:n.2246C>T | ||
| XM_005248262.3:c.2147C>T | XP_005248319.2:p.Ala716Val | |
| XM_017009177.1:c.2147C>T | XP_016864666.1:p.Ala716Val | |
| XM_017009178.1:c.1052C>T | XP_016864667.1:p.Ala351Val | |
| XM_017009179.2:c.1052C>T | XP_016864668.1:p.Ala351Val | |
| XM_017009180.1:c.2147C>T | XP_016864669.1:p.Ala716Val | |
| XM_017009181.1:c.2147C>T | XP_016864670.1:p.Ala716Val | |
| XM_017009182.1:c.2147C>T | XP_016864671.1:p.Ala716Val | |
| XM_017009183.1:c.2147C>T | XP_016864672.1:p.Ala716Val | |
| XM_017009184.1:c.2147C>T | XP_016864673.1:p.Ala716Val | |
| XM_017009187.1:c.2147C>T | XP_016864676.1:p.Ala716Val | |
| XM_024454388.1:c.1052C>T | XP_024310156.1:p.Ala351Val | |
| XM_024454389.1:c.641C>T | XP_024310157.1:p.Ala214Val | |
| XR_001742034.1:n.2164C>T | ||
| XR_001742035.1:n.2164C>T | ||
| NM_001369.3:c.2039C>T MANE Select | NP_001360.1:p.Ala680Val |