Linked Data
dbSNP Id:
rs552180875
gnomAD v2:
22-19956686-G-T
gnomAD v3:
22-19969163-G-T
gnomAD v4:
22-19969163-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19969163G>T , CM000684.2:g.19969163G>T | GRCh38 |
| NC_000022.10:g.19956686G>T , CM000684.1:g.19956686G>T | GRCh37 |
| NC_000022.9:g.18336686G>T | NCBI36 |
| NG_011526.1:g.32424G>T | |
| NG_023326.1:g.52624C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361682.11:c.*427G>T (COMT) MANE Select | ENSP00000354511.6:n.*427G>T | |
| ENST00000677564.1:n.1026G>T (COMT) | ||
| ENST00000678255.1:c.*427G>T (COMT) | ENSP00000504402.1:n.*427G>T | |
| ENST00000678769.1:c.*427G>T (COMT) | ENSP00000503289.1:n.*427G>T | |
| ENST00000678868.1:c.*427G>T (COMT) | ENSP00000503583.1:n.*427G>T | |
| ENST00000678945.1:n.1111G>T (COMT) | ||
| ENST00000361682.10:c.*427G>T (COMT) | ENSP00000354511.6:n.*427G>T | |
| NM_000754.3:c.*427G>T (COMT) | NP_000745.1:n.*427G>T | |
| NM_001135161.1:c.*427G>T (COMT) | NP_001128633.1:n.*427G>T | |
| NM_001135162.1:c.*427G>T (COMT) | NP_001128634.1:n.*427G>T | |
| NM_007310.2:c.*427G>T (COMT) | NP_009294.1:n.*427G>T | |
| XM_005261242.1:c.2764-1954C>A (ARVCF) | XP_005261299.1:n.2764-1954C>A | |
| XM_006724243.1:c.2782-1954C>A (ARVCF) | XP_006724306.1:n.2782-1954C>A | |
| XM_006724246.2:c.2536-1954C>A (ARVCF) | XP_006724309.1:n.2536-1954C>A | |
| XM_011530179.1:c.2749-1954C>A (ARVCF) | XP_011528481.1:n.2749-1954C>A | |
| XM_011530182.1:c.1348-1954C>A (ARVCF) | XP_011528484.1:n.1348-1954C>A | |
| NM_001362828.1:c.*427G>T (COMT) | NP_001349757.1:n.*427G>T | |
| XM_005261242.3:c.2764-1954C>A (ARVCF) | XP_005261299.1:n.2764-1954C>A | |
| XM_006724243.3:c.2782-1954C>A (ARVCF) | XP_006724306.1:n.2782-1954C>A | |
| XM_006724246.4:c.2536-1954C>A (ARVCF) | XP_006724309.1:n.2536-1954C>A | |
| XM_011530179.3:c.2749-1954C>A (ARVCF) | XP_011528481.1:n.2749-1954C>A | |
| XM_011530182.3:c.1348-1954C>A (ARVCF) | XP_011528484.1:n.1348-1954C>A | |
| XM_024452249.1:c.2536-1954C>A (ARVCF) | XP_024308017.1:n.2536-1954C>A | |
| NM_000754.4:c.*427G>T (COMT) MANE Select | NP_000745.1:n.*427G>T | |
| NM_001135161.2:c.*427G>T (COMT) | NP_001128633.1:n.*427G>T | |
| NM_001135162.2:c.*427G>T (COMT) | NP_001128634.1:n.*427G>T | |
| NM_001362828.2:c.*427G>T (COMT) | NP_001349757.1:n.*427G>T | |
| NM_007310.3:c.*427G>T (COMT) | NP_009294.1:n.*427G>T |