Linked Data
dbSNP Id:
rs775160442
ExAC:
22:19956239 G / A
gnomAD v2:
22-19956239-G-A
gnomAD v4:
22-19968716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968716G>A , CM000684.2:g.19968716G>A | GRCh38 |
| NC_000022.10:g.19956239G>A , CM000684.1:g.19956239G>A | GRCh37 |
| NC_000022.9:g.18336239G>A | NCBI36 |
| NG_011526.1:g.31977G>A | |
| NG_023326.1:g.53071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.796G>A (COMT) MANE Select | ENSP00000354511.6:p.Gly266Ser | |
| ENST00000428707.2:c.*1289G>A (COMT) | ENSP00000387695.2:n.*1289G>A | |
| ENST00000676678.1:c.796G>A (COMT) | ENSP00000503719.1:p.Gly266Ser | |
| ENST00000677397.1:c.*375G>A (COMT) | ENSP00000503422.1:n.*375G>A | |
| ENST00000677470.1:n.646G>A (COMT) | ||
| ENST00000677564.1:n.579G>A (COMT) | ||
| ENST00000677675.1:n.596G>A (COMT) | ||
| ENST00000678255.1:c.796G>A (COMT) | ENSP00000504402.1:p.Gly266Ser | |
| ENST00000678769.1:c.889G>A (COMT) | ENSP00000503289.1:p.Gly297Ser | |
| ENST00000678868.1:c.796G>A (COMT) | ENSP00000503583.1:p.Gly266Ser | |
| ENST00000678945.1:n.664G>A (COMT) | ||
| ENST00000207636.9:c.*254G>A (COMT) | ENSP00000207636.5:n.*254G>A | |
| ENST00000361682.10:c.796G>A (COMT) | ENSP00000354511.6:p.Gly266Ser | |
| ENST00000403710.5:c.796G>A (COMT) | ENSP00000385917.1:p.Gly266Ser | |
| ENST00000406520.7:c.796G>A (COMT) | ENSP00000385150.3:p.Gly266Ser | |
| ENST00000407537.5:c.796G>A (COMT) | ENSP00000384654.2:p.Gly266Ser | |
| ENST00000449653.5:c.646G>A (COMT) | ENSP00000416778.1:p.Gly216Ser | |
| NM_000754.3:c.796G>A (COMT) | NP_000745.1:p.Gly266Ser | |
| NM_001135161.1:c.796G>A (COMT) | NP_001128633.1:p.Gly266Ser | |
| NM_001135162.1:c.796G>A (COMT) | NP_001128634.1:p.Gly266Ser | |
| NM_007310.2:c.646G>A (COMT) | NP_009294.1:p.Gly216Ser | |
| XM_005261242.1:c.2764-1507C>T (ARVCF) | XP_005261299.1:n.2764-1507C>T | |
| XM_006724243.1:c.2782-1507C>T (ARVCF) | XP_006724306.1:n.2782-1507C>T | |
| XM_006724246.2:c.2536-1507C>T (ARVCF) | XP_006724309.1:n.2536-1507C>T | |
| XM_011529886.1:c.910G>A (COMT) | XP_011528188.1:p.Gly304Ser | |
| XM_011530179.1:c.2749-1507C>T (ARVCF) | XP_011528481.1:n.2749-1507C>T | |
| XM_011530182.1:c.1348-1507C>T (ARVCF) | XP_011528484.1:n.1348-1507C>T | |
| NM_001362828.1:c.796G>A (COMT) | NP_001349757.1:p.Gly266Ser | |
| XM_005261242.3:c.2764-1507C>T (ARVCF) | XP_005261299.1:n.2764-1507C>T | |
| XM_006724243.3:c.2782-1507C>T (ARVCF) | XP_006724306.1:n.2782-1507C>T | |
| XM_006724246.4:c.2536-1507C>T (ARVCF) | XP_006724309.1:n.2536-1507C>T | |
| XM_011529886.2:c.1207G>A (COMT) | XP_011528188.2:p.Gly403Ser | |
| XM_011530179.3:c.2749-1507C>T (ARVCF) | XP_011528481.1:n.2749-1507C>T | |
| XM_011530182.3:c.1348-1507C>T (ARVCF) | XP_011528484.1:n.1348-1507C>T | |
| XM_017028595.1:c.796G>A (COMT) | XP_016884084.1:p.Gly266Ser | |
| XM_024452249.1:c.2536-1507C>T (ARVCF) | XP_024308017.1:n.2536-1507C>T | |
| NM_000754.4:c.796G>A (COMT) MANE Select | NP_000745.1:p.Gly266Ser | |
| NM_001135161.2:c.796G>A (COMT) | NP_001128633.1:p.Gly266Ser | |
| NM_001135162.2:c.796G>A (COMT) | NP_001128634.1:p.Gly266Ser | |
| NM_001362828.2:c.796G>A (COMT) | NP_001349757.1:p.Gly266Ser | |
| NM_007310.3:c.646G>A (COMT) | NP_009294.1:p.Gly216Ser |