Linked Data
dbSNP Id:
rs9332377
gnomAD v2:
22-19955692-C-T
gnomAD v3:
22-19968169-C-T
gnomAD v4:
22-19968169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968169C>T , CM000684.2:g.19968169C>T | GRCh38 |
| NC_000022.10:g.19955692C>T , CM000684.1:g.19955692C>T | GRCh37 |
| NC_000022.9:g.18335692C>T | NCBI36 |
| NG_011526.1:g.31430C>T | |
| NG_023326.1:g.53618G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361682.11:c.616-367C>T (COMT) MANE Select | ENSP00000354511.6:n.616-367C>T | |
| ENST00000428707.2:c.*742C>T (COMT) | ENSP00000387695.2:n.*742C>T | |
| ENST00000676678.1:c.616-367C>T (COMT) | ENSP00000503719.1:n.616-367C>T | |
| ENST00000677397.1:c.*195-367C>T (COMT) | ENSP00000503422.1:n.*195-367C>T | |
| ENST00000677470.1:n.466-367C>T (COMT) | ||
| ENST00000677564.1:n.399-367C>T (COMT) | ||
| ENST00000677675.1:n.416-367C>T (COMT) | ||
| ENST00000678255.1:c.616-367C>T (COMT) | ENSP00000504402.1:n.616-367C>T | |
| ENST00000678769.1:c.709-367C>T (COMT) | ENSP00000503289.1:n.709-367C>T | |
| ENST00000678868.1:c.616-367C>T (COMT) | ENSP00000503583.1:n.616-367C>T | |
| ENST00000678945.1:n.484-367C>T (COMT) | ||
| ENST00000207636.9:c.*74-367C>T (COMT) | ENSP00000207636.5:n.*74-367C>T | |
| ENST00000361682.10:c.616-367C>T (COMT) | ENSP00000354511.6:n.616-367C>T | |
| ENST00000403710.5:c.616-367C>T (COMT) | ENSP00000385917.1:n.616-367C>T | |
| ENST00000406520.7:c.616-367C>T (COMT) | ENSP00000385150.3:n.616-367C>T | |
| ENST00000407537.5:c.616-367C>T (COMT) | ENSP00000384654.2:n.616-367C>T | |
| ENST00000412786.5:c.616-367C>T (COMT) | ENSP00000403958.1:n.616-367C>T | |
| ENST00000449653.5:c.466-367C>T (COMT) | ENSP00000416778.1:n.466-367C>T | |
| NM_000754.3:c.616-367C>T (COMT) | NP_000745.1:n.616-367C>T | |
| NM_001135161.1:c.616-367C>T (COMT) | NP_001128633.1:n.616-367C>T | |
| NM_001135162.1:c.616-367C>T (COMT) | NP_001128634.1:n.616-367C>T | |
| NM_007310.2:c.466-367C>T (COMT) | NP_009294.1:n.466-367C>T | |
| XM_005261242.1:c.2764-960G>A (ARVCF) | XP_005261299.1:n.2764-960G>A | |
| XM_006724243.1:c.2782-960G>A (ARVCF) | XP_006724306.1:n.2782-960G>A | |
| XM_006724246.2:c.2536-960G>A (ARVCF) | XP_006724309.1:n.2536-960G>A | |
| XM_011529886.1:c.730-367C>T (COMT) | XP_011528188.1:n.730-367C>T | |
| XM_011530179.1:c.2749-960G>A (ARVCF) | XP_011528481.1:n.2749-960G>A | |
| XM_011530182.1:c.1348-960G>A (ARVCF) | XP_011528484.1:n.1348-960G>A | |
| NM_001362828.1:c.616-367C>T (COMT) | NP_001349757.1:n.616-367C>T | |
| XM_005261242.3:c.2764-960G>A (ARVCF) | XP_005261299.1:n.2764-960G>A | |
| XM_006724243.3:c.2782-960G>A (ARVCF) | XP_006724306.1:n.2782-960G>A | |
| XM_006724246.4:c.2536-960G>A (ARVCF) | XP_006724309.1:n.2536-960G>A | |
| XM_011529886.2:c.1027-367C>T (COMT) | XP_011528188.2:n.1027-367C>T | |
| XM_011530179.3:c.2749-960G>A (ARVCF) | XP_011528481.1:n.2749-960G>A | |
| XM_011530182.3:c.1348-960G>A (ARVCF) | XP_011528484.1:n.1348-960G>A | |
| XM_017028595.1:c.616-367C>T (COMT) | XP_016884084.1:n.616-367C>T | |
| XM_024452249.1:c.2536-960G>A (ARVCF) | XP_024308017.1:n.2536-960G>A | |
| NM_000754.4:c.616-367C>T (COMT) MANE Select | NP_000745.1:n.616-367C>T | |
| NM_001135161.2:c.616-367C>T (COMT) | NP_001128633.1:n.616-367C>T | |
| NM_001135162.2:c.616-367C>T (COMT) | NP_001128634.1:n.616-367C>T | |
| NM_001362828.2:c.616-367C>T (COMT) | NP_001349757.1:n.616-367C>T | |
| NM_007310.3:c.466-367C>T (COMT) | NP_009294.1:n.466-367C>T |