Linked Data
ClinVar Variation Id:
506279
dbSNP Id:
rs749397968
ExAC:
5:13762917 C / T
gnomAD v2:
5-13762917-C-T
gnomAD v3:
5-13762808-C-T
gnomAD v4:
5-13762808-C-T
COSMIC:
COSM5045265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13762808C>T , CM000667.2:g.13762808C>T | GRCh38 |
| NC_000005.9:g.13762917C>T , CM000667.1:g.13762917C>T | GRCh37 |
| NC_000005.8:g.13815917C>T | NCBI36 |
| NG_013081.1:g.186673G>A | |
| NG_013081.2:g.186673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10195G>A MANE Select | ENSP00000265104.4:p.Val3399Ile | |
| ENST00000681290.1:c.10150G>A | ENSP00000505288.1:p.Val3384Ile | |
| ENST00000265104.4:c.10195G>A | ENSP00000265104.4:p.Val3399Ile | |
| ENST00000504001.3:n.703G>A | ||
| NM_001369.2:c.10195G>A | NP_001360.1:p.Val3399Ile | |
| XM_005248262.2:c.10150G>A | XP_005248319.1:p.Val3384Ile | |
| XM_005248262.3:c.10303G>A | XP_005248319.2:p.Val3435Ile | |
| XM_017009177.1:c.10303G>A | XP_016864666.1:p.Val3435Ile | |
| XM_017009178.1:c.9208G>A | XP_016864667.1:p.Val3070Ile | |
| XM_017009179.2:c.9208G>A | XP_016864668.1:p.Val3070Ile | |
| XM_017009180.1:c.10303G>A | XP_016864669.1:p.Val3435Ile | |
| XM_017009181.1:c.10303G>A | XP_016864670.1:p.Val3435Ile | |
| XM_017009182.1:c.10303G>A | XP_016864671.1:p.Val3435Ile | |
| XM_017009185.1:c.5392G>A | XP_016864674.1:p.Val1798Ile | |
| XM_017009186.1:c.4945G>A | XP_016864675.1:p.Val1649Ile | |
| XM_017009188.1:c.4282G>A | XP_016864677.1:p.Val1428Ile | |
| XM_024454388.1:c.9208G>A | XP_024310156.1:p.Val3070Ile | |
| XM_024454389.1:c.8797G>A | XP_024310157.1:p.Val2933Ile | |
| NM_001369.3:c.10195G>A MANE Select | NP_001360.1:p.Val3399Ile |