Linked Data
dbSNP Id:
rs1451621264
gnomAD v2:
22-19956745-C-A
gnomAD v3:
22-19969222-C-A
gnomAD v4:
22-19969222-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19969222C>A , CM000684.2:g.19969222C>A | GRCh38 |
| NC_000022.10:g.19956745C>A , CM000684.1:g.19956745C>A | GRCh37 |
| NC_000022.9:g.18336745C>A | NCBI36 |
| NG_011526.1:g.32483C>A | |
| NG_023326.1:g.52565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*486C>A (COMT) MANE Select | ENSP00000354511.6:n.*486C>A | |
| ENST00000677564.1:n.1085C>A (COMT) | ||
| ENST00000678255.1:c.*486C>A (COMT) | ENSP00000504402.1:n.*486C>A | |
| ENST00000678769.1:c.*486C>A (COMT) | ENSP00000503289.1:n.*486C>A | |
| ENST00000678868.1:c.*486C>A (COMT) | ENSP00000503583.1:n.*486C>A | |
| ENST00000678945.1:n.1170C>A (COMT) | ||
| ENST00000361682.10:c.*486C>A (COMT) | ENSP00000354511.6:n.*486C>A | |
| NM_000754.3:c.*486C>A (COMT) | NP_000745.1:n.*486C>A | |
| NM_001135161.1:c.*486C>A (COMT) | NP_001128633.1:n.*486C>A | |
| NM_001135162.1:c.*486C>A (COMT) | NP_001128634.1:n.*486C>A | |
| NM_007310.2:c.*486C>A (COMT) | NP_009294.1:n.*486C>A | |
| XM_005261242.1:c.2764-2013G>T (ARVCF) | XP_005261299.1:n.2764-2013G>T | |
| XM_006724243.1:c.2782-2013G>T (ARVCF) | XP_006724306.1:n.2782-2013G>T | |
| XM_006724246.2:c.2536-2013G>T (ARVCF) | XP_006724309.1:n.2536-2013G>T | |
| XM_011530179.1:c.2749-2013G>T (ARVCF) | XP_011528481.1:n.2749-2013G>T | |
| XM_011530182.1:c.1348-2013G>T (ARVCF) | XP_011528484.1:n.1348-2013G>T | |
| NM_001362828.1:c.*486C>A (COMT) | NP_001349757.1:n.*486C>A | |
| XM_005261242.3:c.2764-2013G>T (ARVCF) | XP_005261299.1:n.2764-2013G>T | |
| XM_006724243.3:c.2782-2013G>T (ARVCF) | XP_006724306.1:n.2782-2013G>T | |
| XM_006724246.4:c.2536-2013G>T (ARVCF) | XP_006724309.1:n.2536-2013G>T | |
| XM_011530179.3:c.2749-2013G>T (ARVCF) | XP_011528481.1:n.2749-2013G>T | |
| XM_011530182.3:c.1348-2013G>T (ARVCF) | XP_011528484.1:n.1348-2013G>T | |
| XM_024452249.1:c.2536-2013G>T (ARVCF) | XP_024308017.1:n.2536-2013G>T | |
| NM_000754.4:c.*486C>A (COMT) MANE Select | NP_000745.1:n.*486C>A | |
| NM_001135161.2:c.*486C>A (COMT) | NP_001128633.1:n.*486C>A | |
| NM_001135162.2:c.*486C>A (COMT) | NP_001128634.1:n.*486C>A | |
| NM_001362828.2:c.*486C>A (COMT) | NP_001349757.1:n.*486C>A | |
| NM_007310.3:c.*486C>A (COMT) | NP_009294.1:n.*486C>A |