Linked Data
dbSNP Id:
rs764155202
ExAC:
6:111628598 C / T
gnomAD v2:
6-111628598-C-T
gnomAD v3:
6-111307395-C-T
gnomAD v4:
6-111307395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111307395C>T , CM000668.2:g.111307395C>T | GRCh38 |
| NC_000006.11:g.111628598C>T , CM000668.1:g.111628598C>T | GRCh37 |
| NC_000006.10:g.111735291C>T | NCBI36 |
| NG_053000.1:g.181321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368802.8:c.9218G>A (REV3L) MANE Select | ENSP00000357792.3:p.Arg3073Gln | |
| ENST00000666581.2:n.277+29237C>T (MFSD4B) | ||
| ENST00000673245.1:n.273+11620C>T (MFSD4B) | ||
| ENST00000673446.1:n.179+39558C>T (MFSD4B) | ||
| ENST00000358835.7:c.9218G>A (REV3L) | ENSP00000351697.3:p.Arg3073Gln | |
| ENST00000368802.7:c.9218G>A (REV3L) | ENSP00000357792.3:p.Arg3073Gln | |
| ENST00000368805.5:c.9218G>A (REV3L) | ENSP00000357795.1:p.Arg3073Gln | |
| ENST00000422377.5:c.*9202G>A (REV3L) | ENSP00000393184.1:n.*9202G>A | |
| ENST00000434009.5:c.*9309G>A (REV3L) | ENSP00000391605.1:n.*9309G>A | |
| ENST00000435970.5:c.8984G>A (REV3L) | ENSP00000402003.1:p.Arg2995Gln | |
| ENST00000462119.5:n.1355G>A (REV3L) | ||
| NM_001286431.1:c.8984G>A (REV3L) | NP_001273360.1:p.Arg2995Gln | |
| NM_001286432.1:c.8984G>A (REV3L) | NP_001273361.1:p.Arg2995Gln | |
| NM_002912.4:c.9218G>A (REV3L) | NP_002903.3:p.Arg3073Gln | |
| XM_006715543.2:c.9218G>A (REV3L) | XP_006715606.1:p.Arg3073Gln | |
| XM_006715544.2:c.8984G>A (REV3L) | XP_006715607.1:p.Arg2995Gln | |
| XM_011536028.1:c.9299G>A (REV3L) | XP_011534330.1:p.Arg3100Gln | |
| XM_011536029.1:c.9296G>A (REV3L) | XP_011534331.1:p.Arg3099Gln | |
| XM_011536030.1:c.9221G>A (REV3L) | XP_011534332.1:p.Arg3074Gln | |
| XM_011536031.1:c.9065G>A (REV3L) | XP_011534333.1:p.Arg3022Gln | |
| XM_011536032.1:c.9065G>A (REV3L) | XP_011534334.1:p.Arg3022Gln | |
| XR_942871.1:n.2045+29237C>T | ||
| XM_011536028.2:c.9299G>A (REV3L) | XP_011534330.1:p.Arg3100Gln | |
| XM_011536029.3:c.9296G>A (REV3L) | XP_011534331.1:p.Arg3099Gln | |
| XM_011536030.3:c.9221G>A (REV3L) | XP_011534332.1:p.Arg3074Gln | |
| XM_011536031.3:c.9065G>A (REV3L) | XP_011534333.1:p.Arg3022Gln | |
| XM_011536032.2:c.9065G>A (REV3L) | XP_011534334.1:p.Arg3022Gln | |
| XM_017011152.2:c.9062G>A (REV3L) | XP_016866641.1:p.Arg3021Gln | |
| XM_017011153.1:c.9062G>A (REV3L) | XP_016866642.1:p.Arg3021Gln | |
| XM_017011154.1:c.9062G>A (REV3L) | XP_016866643.1:p.Arg3021Gln | |
| XR_001743550.2:n.9404G>A (REV3L) | ||
| XR_001743552.2:n.9326G>A (REV3L) | ||
| XR_001743553.2:n.9722G>A (REV3L) | ||
| XR_001743555.2:n.9644G>A (REV3L) | ||
| XR_001743556.2:n.9451G>A (REV3L) | ||
| XR_002956293.1:n.10662G>A (REV3L) | ||
| NM_001286431.2:c.8984G>A (REV3L) | NP_001273360.1:p.Arg2995Gln | |
| NM_001372078.1:c.9218G>A (REV3L) MANE Select | NP_001359007.1:p.Arg3073Gln | |
| NM_001286432.2:c.8984G>A (REV3L) | NP_001273361.1:p.Arg2995Gln | |
| NM_002912.5:c.9218G>A (REV3L) | NP_002903.3:p.Arg3073Gln |