Linked Data
ClinVar Variation Id:
1267973
dbSNP Id:
rs3204953
ExAC:
6:111628626 C / T
gnomAD v2:
6-111628626-C-T
gnomAD v3:
6-111307423-C-T
gnomAD v4:
6-111307423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111307423C>T , CM000668.2:g.111307423C>T | GRCh38 |
| NC_000006.11:g.111628626C>T , CM000668.1:g.111628626C>T | GRCh37 |
| NC_000006.10:g.111735319C>T | NCBI36 |
| NG_053000.1:g.181293G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368802.8:c.9190G>A (REV3L) MANE Select | ENSP00000357792.3:p.Val3064Ile | |
| ENST00000666581.2:n.277+29265C>T (MFSD4B) | ||
| ENST00000673245.1:n.273+11648C>T (MFSD4B) | ||
| ENST00000673446.1:n.179+39586C>T (MFSD4B) | ||
| ENST00000358835.7:c.9190G>A (REV3L) | ENSP00000351697.3:p.Val3064Ile | |
| ENST00000368802.7:c.9190G>A (REV3L) | ENSP00000357792.3:p.Val3064Ile | |
| ENST00000368805.5:c.9190G>A (REV3L) | ENSP00000357795.1:p.Val3064Ile | |
| ENST00000422377.5:c.*9174G>A (REV3L) | ENSP00000393184.1:n.*9174G>A | |
| ENST00000434009.5:c.*9281G>A (REV3L) | ENSP00000391605.1:n.*9281G>A | |
| ENST00000435970.5:c.8956G>A (REV3L) | ENSP00000402003.1:p.Val2986Ile | |
| ENST00000462119.5:n.1327G>A (REV3L) | ||
| NM_001286431.1:c.8956G>A (REV3L) | NP_001273360.1:p.Val2986Ile | |
| NM_001286432.1:c.8956G>A (REV3L) | NP_001273361.1:p.Val2986Ile | |
| NM_002912.4:c.9190G>A (REV3L) | NP_002903.3:p.Val3064Ile | |
| XM_006715543.2:c.9190G>A (REV3L) | XP_006715606.1:p.Val3064Ile | |
| XM_006715544.2:c.8956G>A (REV3L) | XP_006715607.1:p.Val2986Ile | |
| XM_011536028.1:c.9271G>A (REV3L) | XP_011534330.1:p.Val3091Ile | |
| XM_011536029.1:c.9268G>A (REV3L) | XP_011534331.1:p.Val3090Ile | |
| XM_011536030.1:c.9193G>A (REV3L) | XP_011534332.1:p.Val3065Ile | |
| XM_011536031.1:c.9037G>A (REV3L) | XP_011534333.1:p.Val3013Ile | |
| XM_011536032.1:c.9037G>A (REV3L) | XP_011534334.1:p.Val3013Ile | |
| XR_942871.1:n.2045+29265C>T | ||
| XM_011536028.2:c.9271G>A (REV3L) | XP_011534330.1:p.Val3091Ile | |
| XM_011536029.3:c.9268G>A (REV3L) | XP_011534331.1:p.Val3090Ile | |
| XM_011536030.3:c.9193G>A (REV3L) | XP_011534332.1:p.Val3065Ile | |
| XM_011536031.3:c.9037G>A (REV3L) | XP_011534333.1:p.Val3013Ile | |
| XM_011536032.2:c.9037G>A (REV3L) | XP_011534334.1:p.Val3013Ile | |
| XM_017011152.2:c.9034G>A (REV3L) | XP_016866641.1:p.Val3012Ile | |
| XM_017011153.1:c.9034G>A (REV3L) | XP_016866642.1:p.Val3012Ile | |
| XM_017011154.1:c.9034G>A (REV3L) | XP_016866643.1:p.Val3012Ile | |
| XR_001743550.2:n.9376G>A (REV3L) | ||
| XR_001743552.2:n.9298G>A (REV3L) | ||
| XR_001743553.2:n.9694G>A (REV3L) | ||
| XR_001743555.2:n.9616G>A (REV3L) | ||
| XR_001743556.2:n.9423G>A (REV3L) | ||
| XR_002956293.1:n.10634G>A (REV3L) | ||
| NM_001286431.2:c.8956G>A (REV3L) | NP_001273360.1:p.Val2986Ile | |
| NM_001372078.1:c.9190G>A (REV3L) MANE Select | NP_001359007.1:p.Val3064Ile | |
| NM_001286432.2:c.8956G>A (REV3L) | NP_001273361.1:p.Val2986Ile | |
| NM_002912.5:c.9190G>A (REV3L) | NP_002903.3:p.Val3064Ile |