Linked Data
ClinVar Variation Id:
386915
dbSNP Id:
rs750473075
ExAC:
15:40699942 C / T
gnomAD v2:
15-40699942-C-T
gnomAD v3:
15-40407741-C-T
gnomAD v4:
15-40407741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40407741C>T , CM000677.2:g.40407741C>T | GRCh38 |
| NC_000015.9:g.40699942C>T , CM000677.1:g.40699942C>T | GRCh37 |
| NC_000015.8:g.38487234C>T | NCBI36 |
| NG_011986.1:g.7257C>T | |
| NG_011986.2:g.7257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.145-198C>T | ENSP00000417990.3:n.145-198C>T | |
| ENST00000487418.8:c.234+16C>T MANE Select | ENSP00000418397.3:n.234+16C>T | |
| ENST00000610693.5:c.250C>T | ENSP00000479359.2:p.Arg84Trp | |
| ENST00000650656.1:c.154-198C>T | ENSP00000498731.1:n.154-198C>T | |
| ENST00000651168.1:c.243+16C>T | ENSP00000499074.1:n.243+16C>T | |
| ENST00000479013.6:c.154-198C>T | ENSP00000417990.2:n.154-198C>T | |
| ENST00000487418.6:c.243+16C>T | ENSP00000418397.2:n.243+16C>T | |
| ENST00000558610.5:c.186+16C>T | ENSP00000453821.1:n.186+16C>T | |
| ENST00000610693.4:c.259C>T | ENSP00000479359.1:p.Arg87Trp | |
| NM_001159508.1:c.154-198C>T | NP_001152980.1:n.154-198C>T | |
| NM_002225.3:c.243+16C>T | NP_002216.2:n.243+16C>T | |
| XM_005254350.2:c.243+16C>T | XP_005254407.1:n.243+16C>T | |
| XM_005254356.2:c.243+16C>T | XP_005254413.1:n.243+16C>T | |
| XM_006720491.2:c.186+16C>T | XP_006720554.1:n.186+16C>T | |
| XM_006720492.2:c.243+16C>T | XP_006720555.1:n.243+16C>T | |
| XM_006720493.2:c.243+16C>T | XP_006720556.1:n.243+16C>T | |
| XM_006720494.2:c.243+16C>T | XP_006720557.1:n.243+16C>T | |
| XM_006720495.2:c.243+16C>T | XP_006720558.1:n.243+16C>T | |
| XM_011521523.1:c.243+16C>T | XP_011519825.1:n.243+16C>T | |
| XM_011521524.1:c.243+16C>T | XP_011519826.1:n.243+16C>T | |
| XR_243097.3:n.243+16C>T | ||
| XR_243098.2:n.243+16C>T | ||
| XR_429453.2:n.344+16C>T | ||
| NM_001159508.2:c.145-198C>T | NP_001152980.2:n.145-198C>T | |
| NM_001354597.2:c.186+16C>T | NP_001341526.1:n.186+16C>T | |
| NM_001354598.2:c.234+16C>T | NP_001341527.2:n.234+16C>T | |
| NM_001354599.2:c.250C>T | NP_001341528.2:p.Arg84Trp | |
| NM_001354600.2:c.250C>T | NP_001341529.2:p.Arg84Trp | |
| NM_001354601.2:c.234+16C>T | NP_001341530.2:n.234+16C>T | |
| NM_002225.4:c.234+16C>T | NP_002216.3:n.234+16C>T | |
| NR_148925.1:n.644+16C>T | ||
| XM_006720495.3:c.243+16C>T | XP_006720558.1:n.243+16C>T | |
| XM_017022149.1:c.259C>T | XP_016877638.1:p.Arg87Trp | |
| XM_017022150.1:c.259C>T | XP_016877639.1:p.Arg87Trp | |
| XM_017022153.1:c.259C>T | XP_016877642.1:p.Arg87Trp | |
| XM_017022154.2:c.202C>T | XP_016877643.1:p.Arg68Trp | |
| XM_017022155.2:c.259C>T | XP_016877644.1:p.Arg87Trp | |
| XM_017022157.1:c.259C>T | XP_016877646.1:p.Arg87Trp | |
| XM_017022158.2:c.259C>T | XP_016877647.1:p.Arg87Trp | |
| XR_001751263.1:n.593+16C>T | ||
| XR_001751264.1:n.634+16C>T | ||
| NM_001159508.3:c.145-198C>T | NP_001152980.2:n.145-198C>T | |
| NM_001354597.3:c.186+16C>T | NP_001341526.1:n.186+16C>T | |
| NM_001354598.3:c.234+16C>T | NP_001341527.2:n.234+16C>T | |
| NM_001354599.3:c.250C>T | NP_001341528.2:p.Arg84Trp | |
| NM_001354600.3:c.250C>T | NP_001341529.2:p.Arg84Trp | |
| NM_001354601.3:c.234+16C>T | NP_001341530.2:n.234+16C>T | |
| NM_002225.5:c.234+16C>T MANE Select | NP_002216.3:n.234+16C>T | |
| NR_148925.2:n.646+16C>T |