Linked Data
ClinVar Variation Id:
234935
dbSNP Id:
rs876661299
gnomAD v2:
3-3188088-T-C
gnomAD v4:
3-3146404-T-C
PubMed:
PMID:26494905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3146404T>C , CM000665.2:g.3146404T>C | GRCh38 |
| NC_000003.11:g.3188088T>C , CM000665.1:g.3188088T>C | GRCh37 |
| NC_000003.10:g.3163088T>C | NCBI36 |
| NG_041800.1:g.24489T>C | |
| NG_041800.2:g.24489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698406.1:c.609-26T>C (TRNT1) | ENSP00000513700.1:n.609-26T>C | |
| ENST00000698407.1:n.1238-26T>C (TRNT1) | ||
| ENST00000698408.1:c.609-26T>C (TRNT1) | ENSP00000513701.1:n.609-26T>C | |
| ENST00000698410.1:c.*80-26T>C (TRNT1) | ENSP00000513703.1:n.*80-26T>C | |
| ENST00000698412.1:c.609-26T>C (TRNT1) | ENSP00000513705.1:n.609-26T>C | |
| ENST00000698413.1:c.726-26T>C (TRNT1) | ENSP00000513706.1:n.726-26T>C | |
| ENST00000698414.1:c.726-26T>C (TRNT1) | ENSP00000513707.1:n.726-26T>C | |
| ENST00000698415.1:n.1970-26T>C (TRNT1) | ||
| ENST00000698416.1:n.847T>C (TRNT1) | ||
| ENST00000251607.11:c.609-26T>C (TRNT1) MANE Select | ENSP00000251607.6:n.609-26T>C | |
| ENST00000639284.1:c.1312-905A>G (CRBN) | ENSP00000491442.1:n.1312-905A>G | |
| ENST00000650755.1:c.*259-26T>C (TRNT1) | ENSP00000499122.1:n.*259-26T>C | |
| ENST00000650814.1:c.295-12T>C (TRNT1) | ||
| ENST00000650839.1:c.609-12T>C (TRNT1) | ENSP00000498970.1:n.609-12T>C | |
| ENST00000650989.1:n.350-1046T>C (TRNT1) | ||
| ENST00000651093.1:c.609-1046T>C (TRNT1) | ENSP00000498942.1:n.609-1046T>C | |
| ENST00000651316.1:c.*148-1046T>C (TRNT1) | ENSP00000498787.1:n.*148-1046T>C | |
| ENST00000651352.1:c.*80-26T>C (TRNT1) | ENSP00000498449.1:n.*80-26T>C | |
| ENST00000651591.1:c.*533-1046T>C (TRNT1) | ENSP00000498240.1:n.*533-1046T>C | |
| ENST00000652340.1:c.402-26T>C (TRNT1) | ENSP00000498624.1:n.402-26T>C | |
| ENST00000251607.10:c.609-26T>C (TRNT1) | ENSP00000251607.6:n.609-26T>C | |
| ENST00000280591.10:c.609-26T>C (TRNT1) | ENSP00000280591.6:n.609-26T>C | |
| ENST00000434583.5:c.609-26T>C (TRNT1) | ENSP00000415100.1:n.609-26T>C | |
| NM_001302946.1:c.609-26T>C (TRNT1) | NP_001289875.1:n.609-26T>C | |
| NM_182916.2:c.609-26T>C (TRNT1) | NP_886552.2:n.609-26T>C | |
| XM_005265196.1:c.609-26T>C (TRNT1) | XP_005265253.1:n.609-26T>C | |
| XM_011533776.1:c.609-26T>C (TRNT1) | XP_011532078.1:n.609-26T>C | |
| XM_011533777.1:c.609-26T>C (TRNT1) | XP_011532079.1:n.609-26T>C | |
| XM_011533778.1:c.609-26T>C (TRNT1) | XP_011532080.1:n.609-26T>C | |
| XR_940445.1:n.711-26T>C (TRNT1) | ||
| XR_940446.1:n.711-26T>C (TRNT1) | ||
| XM_011533776.3:c.609-26T>C (TRNT1) | XP_011532078.1:n.609-26T>C | |
| XM_011533777.2:c.609-26T>C (TRNT1) | XP_011532079.1:n.609-26T>C | |
| XM_011533778.3:c.609-26T>C (TRNT1) | XP_011532080.1:n.609-26T>C | |
| XR_001740168.2:n.690-26T>C (TRNT1) | ||
| XR_001740169.2:n.690-26T>C (TRNT1) | ||
| XR_940445.3:n.690-26T>C (TRNT1) | ||
| XR_940446.3:n.690-26T>C (TRNT1) | ||
| NM_001302946.2:c.609-26T>C (TRNT1) | NP_001289875.2:n.609-26T>C | |
| NM_001367321.1:c.609-26T>C (TRNT1) | NP_001354250.1:n.609-26T>C | |
| NM_001367322.1:c.609-26T>C (TRNT1) | NP_001354251.1:n.609-26T>C | |
| NM_001367323.1:c.609-26T>C (TRNT1) | NP_001354252.1:n.609-26T>C | |
| NM_182916.3:c.609-26T>C (TRNT1) MANE Select | NP_886552.3:n.609-26T>C | |
| NR_159934.1:n.687-26T>C (TRNT1) | ||
| NR_159935.1:n.687-26T>C (TRNT1) | ||
| NR_159936.1:n.687-1046T>C (TRNT1) | ||
| NR_159937.1:n.1715-12T>C (TRNT1) | ||
| NR_159938.1:n.687-1046T>C (TRNT1) | ||
| NR_159939.1:n.548-26T>C (TRNT1) | ||
| NR_159940.1:n.548-12T>C (TRNT1) | ||
| NR_159941.1:n.1715-12T>C (TRNT1) |