Linked Data
ClinVar Variation Id:
1821
dbSNP Id:
rs121918368
ExAC:
3:3192623 G / A
gnomAD v2:
3-3192623-G-A
gnomAD v3:
3-3150939-G-A
gnomAD v4:
3-3150939-G-A
COSMIC:
COSM4116869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3150939G>A , CM000665.2:g.3150939G>A | GRCh38 |
| NC_000003.11:g.3192623G>A , CM000665.1:g.3192623G>A | GRCh37 |
| NC_000003.10:g.3167623G>A | NCBI36 |
| NG_016864.1:g.33779C>T | |
| NG_041800.1:g.29024G>A | |
| NG_041800.2:g.29024G>A | |
| NG_016864.2:g.33779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698406.1:c.*34-1475G>A (TRNT1) | ENSP00000513700.1:n.*34-1475G>A | |
| ENST00000698407.1:n.4719G>A (TRNT1) | ||
| ENST00000698408.1:c.*174-1475G>A (TRNT1) | ENSP00000513701.1:n.*174-1475G>A | |
| ENST00000698410.1:c.*3561G>A (TRNT1) | ENSP00000513703.1:n.*3561G>A | |
| ENST00000698412.1:c.*2785G>A (TRNT1) | ENSP00000513705.1:n.*2785G>A | |
| ENST00000698413.1:c.*2785G>A (TRNT1) | ENSP00000513706.1:n.*2785G>A | |
| ENST00000698414.1:c.*2785G>A (TRNT1) | ENSP00000513707.1:n.*2785G>A | |
| ENST00000698415.1:n.5451G>A (TRNT1) | ||
| ENST00000698416.1:n.4354G>A (TRNT1) | ||
| ENST00000231948.9:c.1255C>T (CRBN) MANE Select | ENSP00000231948.4:p.Arg419Ter | |
| ENST00000639284.1:c.1255C>T (CRBN) | ENSP00000491442.1:p.Arg419Ter | |
| ENST00000231948.8:c.1255C>T (CRBN) | ENSP00000231948.4:p.Arg419Ter | |
| ENST00000424814.5:c.1110C>T (CRBN) | ||
| ENST00000432408.6:c.1252C>T (CRBN) | ENSP00000412499.2:p.Arg418Ter | |
| ENST00000459840.5:n.644C>T (CRBN) | ||
| ENST00000488263.5:n.3600C>T (CRBN) | ||
| ENST00000491834.5:n.3681C>T (CRBN) | ||
| NM_001173482.1:c.1252C>T (CRBN) | NP_001166953.1:p.Arg418Ter | |
| NM_016302.3:c.1255C>T (CRBN) | NP_057386.2:p.Arg419Ter | |
| XM_005265202.2:c.1066C>T (CRBN) | XP_005265259.1:p.Arg356Ter | |
| XM_011533791.1:c.1123C>T (CRBN) | XP_011532093.1:p.Arg375Ter | |
| XM_011533793.1:c.763C>T (CRBN) | XP_011532095.1:p.Arg255Ter | |
| XM_011533794.1:c.763C>T (CRBN) | XP_011532096.1:p.Arg255Ter | |
| XR_940446.1:n.1581-1475G>A (TRNT1) | ||
| XR_940448.1:n.1156C>T (CRBN) | ||
| XM_005265202.4:c.1066C>T (CRBN) | XP_005265259.1:p.Arg356Ter | |
| XM_011533778.3:c.*433G>A (TRNT1) | XP_011532080.1:n.*433G>A | |
| XM_011533791.3:c.1123C>T (CRBN) | XP_011532093.1:p.Arg375Ter | |
| XM_011533793.2:c.763C>T (CRBN) | XP_011532095.1:p.Arg255Ter | |
| XM_011533794.2:c.763C>T (CRBN) | XP_011532096.1:p.Arg255Ter | |
| XM_024453551.1:c.*152C>T (CRBN) | XP_024309319.1:n.*152C>T | |
| XR_001740169.2:n.2466-1475G>A (TRNT1) | ||
| XR_940445.3:n.1959G>A (TRNT1) | ||
| XR_940446.3:n.1560-1475G>A (TRNT1) | ||
| XR_940448.3:n.1153C>T (CRBN) | ||
| NM_001367321.1:c.*433G>A (TRNT1) | NP_001354250.1:n.*433G>A | |
| NR_159934.1:n.1956G>A (TRNT1) | ||
| NR_159935.1:n.1557-1475G>A (TRNT1) | ||
| NR_159936.1:n.1762G>A (TRNT1) | ||
| NR_159937.1:n.2998G>A (TRNT1) | ||
| NM_016302.4:c.1255C>T (CRBN) MANE Select | NP_057386.2:p.Arg419Ter |