Linked Data
dbSNP Id:
rs1030230368
gnomAD v2:
22-19956234-G-T
gnomAD v3:
22-19968711-G-T
gnomAD v4:
22-19968711-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968711G>T , CM000684.2:g.19968711G>T | GRCh38 |
| NC_000022.10:g.19956234G>T , CM000684.1:g.19956234G>T | GRCh37 |
| NC_000022.9:g.18336234G>T | NCBI36 |
| NG_011526.1:g.31972G>T | |
| NG_023326.1:g.53076C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.791G>T (COMT) MANE Select | ENSP00000354511.6:p.Gly264Val | |
| ENST00000428707.2:c.*1284G>T (COMT) | ENSP00000387695.2:n.*1284G>T | |
| ENST00000676678.1:c.791G>T (COMT) | ENSP00000503719.1:p.Gly264Val | |
| ENST00000677397.1:c.*370G>T (COMT) | ENSP00000503422.1:n.*370G>T | |
| ENST00000677470.1:n.641G>T (COMT) | ||
| ENST00000677564.1:n.574G>T (COMT) | ||
| ENST00000677675.1:n.591G>T (COMT) | ||
| ENST00000678255.1:c.791G>T (COMT) | ENSP00000504402.1:p.Gly264Val | |
| ENST00000678769.1:c.884G>T (COMT) | ENSP00000503289.1:p.Gly295Val | |
| ENST00000678868.1:c.791G>T (COMT) | ENSP00000503583.1:p.Gly264Val | |
| ENST00000678945.1:n.659G>T (COMT) | ||
| ENST00000207636.9:c.*249G>T (COMT) | ENSP00000207636.5:n.*249G>T | |
| ENST00000361682.10:c.791G>T (COMT) | ENSP00000354511.6:p.Gly264Val | |
| ENST00000403710.5:c.791G>T (COMT) | ENSP00000385917.1:p.Gly264Val | |
| ENST00000406520.7:c.791G>T (COMT) | ENSP00000385150.3:p.Gly264Val | |
| ENST00000407537.5:c.791G>T (COMT) | ENSP00000384654.2:p.Gly264Val | |
| ENST00000449653.5:c.641G>T (COMT) | ENSP00000416778.1:p.Gly214Val | |
| NM_000754.3:c.791G>T (COMT) | NP_000745.1:p.Gly264Val | |
| NM_001135161.1:c.791G>T (COMT) | NP_001128633.1:p.Gly264Val | |
| NM_001135162.1:c.791G>T (COMT) | NP_001128634.1:p.Gly264Val | |
| NM_007310.2:c.641G>T (COMT) | NP_009294.1:p.Gly214Val | |
| XM_005261242.1:c.2764-1502C>A (ARVCF) | XP_005261299.1:n.2764-1502C>A | |
| XM_006724243.1:c.2782-1502C>A (ARVCF) | XP_006724306.1:n.2782-1502C>A | |
| XM_006724246.2:c.2536-1502C>A (ARVCF) | XP_006724309.1:n.2536-1502C>A | |
| XM_011529886.1:c.905G>T (COMT) | XP_011528188.1:p.Gly302Val | |
| XM_011530179.1:c.2749-1502C>A (ARVCF) | XP_011528481.1:n.2749-1502C>A | |
| XM_011530182.1:c.1348-1502C>A (ARVCF) | XP_011528484.1:n.1348-1502C>A | |
| NM_001362828.1:c.791G>T (COMT) | NP_001349757.1:p.Gly264Val | |
| XM_005261242.3:c.2764-1502C>A (ARVCF) | XP_005261299.1:n.2764-1502C>A | |
| XM_006724243.3:c.2782-1502C>A (ARVCF) | XP_006724306.1:n.2782-1502C>A | |
| XM_006724246.4:c.2536-1502C>A (ARVCF) | XP_006724309.1:n.2536-1502C>A | |
| XM_011529886.2:c.1202G>T (COMT) | XP_011528188.2:p.Gly401Val | |
| XM_011530179.3:c.2749-1502C>A (ARVCF) | XP_011528481.1:n.2749-1502C>A | |
| XM_011530182.3:c.1348-1502C>A (ARVCF) | XP_011528484.1:n.1348-1502C>A | |
| XM_017028595.1:c.791G>T (COMT) | XP_016884084.1:p.Gly264Val | |
| XM_024452249.1:c.2536-1502C>A (ARVCF) | XP_024308017.1:n.2536-1502C>A | |
| NM_000754.4:c.791G>T (COMT) MANE Select | NP_000745.1:p.Gly264Val | |
| NM_001135161.2:c.791G>T (COMT) | NP_001128633.1:p.Gly264Val | |
| NM_001135162.2:c.791G>T (COMT) | NP_001128634.1:p.Gly264Val | |
| NM_001362828.2:c.791G>T (COMT) | NP_001349757.1:p.Gly264Val | |
| NM_007310.3:c.641G>T (COMT) | NP_009294.1:p.Gly214Val |