Linked Data
ClinVar Variation Id:
157615
dbSNP Id:
rs368078167
ExAC:
3:3189583 C / G
gnomAD v2:
3-3189583-C-G
gnomAD v3:
3-3147899-C-G
gnomAD v4:
3-3147899-C-G
PubMed:
PMID:25193871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3147899C>G , CM000665.2:g.3147899C>G | GRCh38 |
| NC_000003.11:g.3189583C>G , CM000665.1:g.3189583C>G | GRCh37 |
| NC_000003.10:g.3164583C>G | NCBI36 |
| NG_016864.1:g.36819G>C | |
| NG_041800.1:g.25984C>G | |
| NG_041800.2:g.25984C>G | |
| NG_016864.2:g.36819G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698406.1:c.1057-7C>G (TRNT1) | ENSP00000513700.1:n.1057-7C>G | |
| ENST00000698407.1:n.1686-7C>G (TRNT1) | ||
| ENST00000698408.1:c.1057-7C>G (TRNT1) | ENSP00000513701.1:n.1057-7C>G | |
| ENST00000698410.1:c.*528-7C>G (TRNT1) | ENSP00000513703.1:n.*528-7C>G | |
| ENST00000698412.1:c.1057-7C>G (TRNT1) | ENSP00000513705.1:n.1057-7C>G | |
| ENST00000698413.1:c.1174-7C>G (TRNT1) | ENSP00000513706.1:n.1174-7C>G | |
| ENST00000698414.1:c.1174-7C>G (TRNT1) | ENSP00000513707.1:n.1174-7C>G | |
| ENST00000698415.1:n.2418-7C>G (TRNT1) | ||
| ENST00000698416.1:n.1321-7C>G (TRNT1) | ||
| ENST00000251607.11:c.1057-7C>G (TRNT1) MANE Select | ENSP00000251607.6:n.1057-7C>G | |
| ENST00000639284.1:c.1312-2400G>C (CRBN) | ENSP00000491442.1:n.1312-2400G>C | |
| ENST00000650755.1:c.*707-7C>G (TRNT1) | ENSP00000499122.1:n.*707-7C>G | |
| ENST00000650814.1:c.757-7C>G (TRNT1) | ||
| ENST00000650839.1:c.*429-7C>G (TRNT1) | ENSP00000498970.1:n.*429-7C>G | |
| ENST00000650989.1:n.604-7C>G (TRNT1) | ||
| ENST00000651093.1:c.*242-7C>G (TRNT1) | ENSP00000498942.1:n.*242-7C>G | |
| ENST00000651316.1:c.*402-7C>G (TRNT1) | ENSP00000498787.1:n.*402-7C>G | |
| ENST00000651352.1:c.*528-7C>G (TRNT1) | ENSP00000498449.1:n.*528-7C>G | |
| ENST00000651591.1:c.*787-7C>G (TRNT1) | ENSP00000498240.1:n.*787-7C>G | |
| ENST00000652340.1:c.850-7C>G (TRNT1) | ENSP00000498624.1:n.850-7C>G | |
| ENST00000251607.10:c.1057-7C>G (TRNT1) | ENSP00000251607.6:n.1057-7C>G | |
| ENST00000280591.10:c.997-7C>G (TRNT1) | ENSP00000280591.6:n.997-7C>G | |
| ENST00000434583.5:c.1057-7C>G (TRNT1) | ENSP00000415100.1:n.1057-7C>G | |
| NM_001302946.1:c.997-7C>G (TRNT1) | NP_001289875.1:n.997-7C>G | |
| NM_182916.2:c.1057-7C>G (TRNT1) | NP_886552.2:n.1057-7C>G | |
| XM_005265196.1:c.1057-7C>G (TRNT1) | XP_005265253.1:n.1057-7C>G | |
| XM_011533776.1:c.1057-7C>G (TRNT1) | XP_011532078.1:n.1057-7C>G | |
| XM_011533777.1:c.1057-7C>G (TRNT1) | XP_011532079.1:n.1057-7C>G | |
| XM_011533778.1:c.1057-7C>G (TRNT1) | XP_011532080.1:n.1057-7C>G | |
| XR_940445.1:n.1159-7C>G (TRNT1) | ||
| XR_940446.1:n.1159-7C>G (TRNT1) | ||
| XM_011533776.3:c.1057-7C>G (TRNT1) | XP_011532078.1:n.1057-7C>G | |
| XM_011533777.2:c.1057-7C>G (TRNT1) | XP_011532079.1:n.1057-7C>G | |
| XM_011533778.3:c.1057-7C>G (TRNT1) | XP_011532080.1:n.1057-7C>G | |
| XR_001740168.2:n.1138-7C>G (TRNT1) | ||
| XR_001740169.2:n.1138-7C>G (TRNT1) | ||
| XR_940445.3:n.1138-7C>G (TRNT1) | ||
| XR_940446.3:n.1138-7C>G (TRNT1) | ||
| NM_001302946.2:c.997-7C>G (TRNT1) | NP_001289875.2:n.997-7C>G | |
| NM_001367321.1:c.1057-7C>G (TRNT1) | NP_001354250.1:n.1057-7C>G | |
| NM_001367322.1:c.1057-7C>G (TRNT1) | NP_001354251.1:n.1057-7C>G | |
| NM_001367323.1:c.1057-7C>G (TRNT1) | NP_001354252.1:n.1057-7C>G | |
| NM_182916.3:c.1057-7C>G (TRNT1) MANE Select | NP_886552.3:n.1057-7C>G | |
| NR_159934.1:n.1135-7C>G (TRNT1) | ||
| NR_159935.1:n.1135-7C>G (TRNT1) | ||
| NR_159936.1:n.941-7C>G (TRNT1) | ||
| NR_159937.1:n.2177-7C>G (TRNT1) | ||
| NR_159938.1:n.941-7C>G (TRNT1) | ||
| NR_159939.1:n.996-7C>G (TRNT1) | ||
| NR_159940.1:n.1010-7C>G (TRNT1) | ||
| NR_159941.1:n.2177-7C>G (TRNT1) |