Linked Data
dbSNP Id:
rs10194776
gnomAD v2:
2-231980019-C-T
gnomAD v3:
2-231115305-C-T
gnomAD v4:
2-231115305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231115305C>T , CM000664.2:g.231115305C>T | GRCh38 |
| NC_000002.11:g.231980019C>T , CM000664.1:g.231980019C>T | GRCh37 |
| NC_000002.10:g.231688263C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258400.4:c.353-1376G>A (HTR2B) MANE Select | ENSP00000258400.3:n.353-1376G>A | |
| ENST00000308696.11:c.1884-23431C>T (PSMD1) MANE Select | ENSP00000309474.6:n.1884-23431C>T | |
| ENST00000373635.9:c.1884-23431C>T (PSMD1) | ENSP00000362738.4:n.1884-23431C>T | |
| ENST00000409643.6:c.1884-23431C>T (PSMD1) | ENSP00000386932.2:n.1884-23431C>T | |
| ENST00000431051.6:c.*1567-23431C>T (PSMD1) | ENSP00000400483.1:n.*1567-23431C>T | |
| ENST00000619128.5:c.1884-23431C>T (PSMD1) | ENSP00000479986.2:n.1884-23431C>T | |
| ENST00000676506.1:n.2046-23431C>T (PSMD1) | ||
| ENST00000676739.1:n.2061-23431C>T (PSMD1) | ||
| ENST00000676740.1:c.1884-23431C>T (PSMD1) | ENSP00000502965.1:n.1884-23431C>T | |
| ENST00000676818.1:c.1884-23431C>T (PSMD1) | ENSP00000504827.1:n.1884-23431C>T | |
| ENST00000677000.1:c.1884-23431C>T (PSMD1) | ENSP00000502972.1:n.1884-23431C>T | |
| ENST00000677158.1:c.1476-23431C>T (PSMD1) | ENSP00000504825.1:n.1476-23431C>T | |
| ENST00000677180.1:c.1884-23431C>T (PSMD1) | ENSP00000504399.1:n.1884-23431C>T | |
| ENST00000677195.1:n.1343-23431C>T (PSMD1) | ||
| ENST00000677230.1:c.1884-23431C>T (PSMD1) | ENSP00000503068.1:n.1884-23431C>T | |
| ENST00000677233.1:n.2061-23431C>T (PSMD1) | ||
| ENST00000677259.1:c.1884-23431C>T (PSMD1) | ENSP00000504229.1:n.1884-23431C>T | |
| ENST00000677724.1:c.1884-23431C>T (PSMD1) | ENSP00000503532.1:n.1884-23431C>T | |
| ENST00000678112.1:c.1884-23431C>T (PSMD1) | ENSP00000503748.1:n.1884-23431C>T | |
| ENST00000678140.1:c.*1506-23431C>T (PSMD1) | ENSP00000502916.1:n.*1506-23431C>T | |
| ENST00000678241.1:c.*718-23431C>T (PSMD1) | ENSP00000503867.1:n.*718-23431C>T | |
| ENST00000678460.1:c.1819-23431C>T (PSMD1) | ENSP00000503826.1:n.1819-23431C>T | |
| ENST00000678632.1:n.2061-23431C>T (PSMD1) | ||
| ENST00000678679.1:c.1818+30191C>T (PSMD1) | ENSP00000503840.1:n.1818+30191C>T | |
| ENST00000679034.1:c.1884-23431C>T (PSMD1) | ENSP00000502852.1:n.1884-23431C>T | |
| ENST00000679095.1:c.1884-23431C>T (PSMD1) | ENSP00000503973.1:n.1884-23431C>T | |
| ENST00000258400.3:c.353-1376G>A (HTR2B) | ENSP00000258400.3:n.353-1376G>A | |
| ENST00000308696.10:c.1884-23431C>T (PSMD1) | ENSP00000309474.6:n.1884-23431C>T | |
| ENST00000373635.8:c.1884-23431C>T (PSMD1) | ENSP00000362738.4:n.1884-23431C>T | |
| ENST00000409643.5:c.1884-23431C>T (PSMD1) | ENSP00000386932.1:n.1884-23431C>T | |
| ENST00000431051.5:c.*1567-23431C>T (PSMD1) | ENSP00000400483.1:n.*1567-23431C>T | |
| ENST00000447633.1:c.362-23431C>T (PSMD1) | ||
| ENST00000619128.4:c.1884-23431C>T (PSMD1) | ENSP00000479986.1:n.1884-23431C>T | |
| NM_000867.4:c.353-1376G>A (HTR2B) | NP_000858.3:n.353-1376G>A | |
| NM_001191037.1:c.1884-23431C>T (PSMD1) | NP_001177966.1:n.1884-23431C>T | |
| NM_002807.3:c.1884-23431C>T (PSMD1) | NP_002798.2:n.1884-23431C>T | |
| NR_034059.1:n.1876-23431C>T (PSMD1) | ||
| XM_005246520.3:c.-5-1376G>A (HTR2B) | XP_005246577.1:n.-5-1376G>A | |
| XM_006712482.2:c.278-1376G>A (HTR2B) | XP_006712545.1:n.278-1376G>A | |
| XM_011511073.1:c.227-1376G>A (HTR2B) | XP_011509375.1:n.227-1376G>A | |
| NM_001320758.1:c.227-1376G>A (HTR2B) | NP_001307687.1:n.227-1376G>A | |
| XM_005246520.4:c.-5-1376G>A (HTR2B) | XP_005246577.1:n.-5-1376G>A | |
| XM_006712482.3:c.278-1376G>A (HTR2B) | XP_006712545.1:n.278-1376G>A | |
| NM_000867.5:c.353-1376G>A (HTR2B) MANE Select | NP_000858.3:n.353-1376G>A | |
| NM_002807.4:c.1884-23431C>T (PSMD1) MANE Select | NP_002798.2:n.1884-23431C>T | |
| NM_001320758.2:c.227-1376G>A (HTR2B) | NP_001307687.1:n.227-1376G>A | |
| NM_001191037.2:c.1884-23431C>T (PSMD1) | NP_001177966.1:n.1884-23431C>T | |
| NR_034059.2:n.1873-23431C>T (PSMD1) |