Linked Data
dbSNP Id:
rs915526088
gnomAD v2:
22-19956550-T-C
gnomAD v3:
22-19969027-T-C
gnomAD v4:
22-19969027-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19969027T>C , CM000684.2:g.19969027T>C | GRCh38 |
| NC_000022.10:g.19956550T>C , CM000684.1:g.19956550T>C | GRCh37 |
| NC_000022.9:g.18336550T>C | NCBI36 |
| NG_011526.1:g.32288T>C | |
| NG_023326.1:g.52760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*291T>C (COMT) MANE Select | ENSP00000354511.6:n.*291T>C | |
| ENST00000676678.1:c.*291T>C (COMT) | ENSP00000503719.1:n.*291T>C | |
| ENST00000677470.1:n.957T>C (COMT) | ||
| ENST00000677564.1:n.890T>C (COMT) | ||
| ENST00000677675.1:n.907T>C (COMT) | ||
| ENST00000678255.1:c.*291T>C (COMT) | ENSP00000504402.1:n.*291T>C | |
| ENST00000678769.1:c.*291T>C (COMT) | ENSP00000503289.1:n.*291T>C | |
| ENST00000678868.1:c.*291T>C (COMT) | ENSP00000503583.1:n.*291T>C | |
| ENST00000678945.1:n.975T>C (COMT) | ||
| ENST00000361682.10:c.*291T>C (COMT) | ENSP00000354511.6:n.*291T>C | |
| NM_000754.3:c.*291T>C (COMT) | NP_000745.1:n.*291T>C | |
| NM_001135161.1:c.*291T>C (COMT) | NP_001128633.1:n.*291T>C | |
| NM_001135162.1:c.*291T>C (COMT) | NP_001128634.1:n.*291T>C | |
| NM_007310.2:c.*291T>C (COMT) | NP_009294.1:n.*291T>C | |
| XM_005261242.1:c.2764-1818A>G (ARVCF) | XP_005261299.1:n.2764-1818A>G | |
| XM_006724243.1:c.2782-1818A>G (ARVCF) | XP_006724306.1:n.2782-1818A>G | |
| XM_006724246.2:c.2536-1818A>G (ARVCF) | XP_006724309.1:n.2536-1818A>G | |
| XM_011529886.1:c.*291T>C (COMT) | XP_011528188.1:n.*291T>C | |
| XM_011530179.1:c.2749-1818A>G (ARVCF) | XP_011528481.1:n.2749-1818A>G | |
| XM_011530182.1:c.1348-1818A>G (ARVCF) | XP_011528484.1:n.1348-1818A>G | |
| NM_001362828.1:c.*291T>C (COMT) | NP_001349757.1:n.*291T>C | |
| XM_005261242.3:c.2764-1818A>G (ARVCF) | XP_005261299.1:n.2764-1818A>G | |
| XM_006724243.3:c.2782-1818A>G (ARVCF) | XP_006724306.1:n.2782-1818A>G | |
| XM_006724246.4:c.2536-1818A>G (ARVCF) | XP_006724309.1:n.2536-1818A>G | |
| XM_011529886.2:c.*291T>C (COMT) | XP_011528188.2:n.*291T>C | |
| XM_011530179.3:c.2749-1818A>G (ARVCF) | XP_011528481.1:n.2749-1818A>G | |
| XM_011530182.3:c.1348-1818A>G (ARVCF) | XP_011528484.1:n.1348-1818A>G | |
| XM_017028595.1:c.*291T>C (COMT) | XP_016884084.1:n.*291T>C | |
| XM_024452249.1:c.2536-1818A>G (ARVCF) | XP_024308017.1:n.2536-1818A>G | |
| NM_000754.4:c.*291T>C (COMT) MANE Select | NP_000745.1:n.*291T>C | |
| NM_001135161.2:c.*291T>C (COMT) | NP_001128633.1:n.*291T>C | |
| NM_001135162.2:c.*291T>C (COMT) | NP_001128634.1:n.*291T>C | |
| NM_001362828.2:c.*291T>C (COMT) | NP_001349757.1:n.*291T>C | |
| NM_007310.3:c.*291T>C (COMT) | NP_009294.1:n.*291T>C |