Linked Data
ClinVar Variation Id:
2676189
ClinVar RCV Id:
RCV003461759
dbSNP Id:
rs771914739
ExAC:
15:40703457 A / C
gnomAD v2:
15-40703457-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40411258A>C , CM000677.2:g.40411258A>C | GRCh38 |
| NC_000015.9:g.40703457A>C , CM000677.1:g.40703457A>C | GRCh37 |
| NC_000015.8:g.38490749A>C | NCBI36 |
| NG_011986.1:g.10772A>C | |
| NG_011986.2:g.10774A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.367-2A>C | ENSP00000417990.3:n.367-2A>C | |
| ENST00000487418.8:c.457-2A>C MANE Select | ENSP00000418397.3:n.457-2A>C | |
| ENST00000610693.5:c.544-2A>C | ENSP00000479359.2:n.544-2A>C | |
| ENST00000650656.1:c.376-2A>C | ENSP00000498731.1:n.376-2A>C | |
| ENST00000651168.1:c.466-2A>C | ENSP00000499074.1:n.466-2A>C | |
| ENST00000473112.6:c.216-2A>C | ||
| ENST00000479013.6:c.376-2A>C | ENSP00000417990.2:n.376-2A>C | |
| ENST00000481262.6:c.63-2A>C | ||
| ENST00000484250.1:n.80-2A>C | ||
| ENST00000487418.6:c.466-2A>C | ENSP00000418397.2:n.466-2A>C | |
| ENST00000558610.5:c.409-2A>C | ENSP00000453821.1:n.409-2A>C | |
| ENST00000610693.4:c.553-2A>C | ENSP00000479359.1:n.553-2A>C | |
| NM_001159508.1:c.376-2A>C | NP_001152980.1:n.376-2A>C | |
| NM_002225.3:c.466-2A>C | NP_002216.2:n.466-2A>C | |
| XM_005254350.2:c.466-2A>C | XP_005254407.1:n.466-2A>C | |
| XM_005254356.2:c.466-2A>C | XP_005254413.1:n.466-2A>C | |
| XM_006720491.2:c.409-2A>C | XP_006720554.1:n.409-2A>C | |
| XM_006720492.2:c.466-2A>C | XP_006720555.1:n.466-2A>C | |
| XM_006720493.2:c.466-2A>C | XP_006720556.1:n.466-2A>C | |
| XM_006720494.2:c.466-2A>C | XP_006720557.1:n.466-2A>C | |
| XM_006720495.2:c.466-2A>C | XP_006720558.1:n.466-2A>C | |
| XM_011521523.1:c.466-2A>C | XP_011519825.1:n.466-2A>C | |
| XM_011521524.1:c.466-2A>C | XP_011519826.1:n.466-2A>C | |
| XR_243097.3:n.466-2A>C | ||
| XR_243098.2:n.466-2A>C | ||
| XR_429453.2:n.567-2A>C | ||
| NM_001159508.2:c.367-2A>C | NP_001152980.2:n.367-2A>C | |
| NM_001354597.2:c.409-2A>C | NP_001341526.1:n.409-2A>C | |
| NM_001354598.2:c.457-2A>C | NP_001341527.2:n.457-2A>C | |
| NM_001354599.2:c.544-2A>C | NP_001341528.2:n.544-2A>C | |
| NM_001354600.2:c.544-2A>C | NP_001341529.2:n.544-2A>C | |
| NM_001354601.2:c.457-2A>C | NP_001341530.2:n.457-2A>C | |
| NM_002225.4:c.457-2A>C | NP_002216.3:n.457-2A>C | |
| NR_148925.1:n.867-2A>C | ||
| XM_006720495.3:c.466-2A>C | XP_006720558.1:n.466-2A>C | |
| XM_017022149.1:c.553-2A>C | XP_016877638.1:n.553-2A>C | |
| XM_017022150.1:c.553-2A>C | XP_016877639.1:n.553-2A>C | |
| XM_017022153.1:c.553-2A>C | XP_016877642.1:n.553-2A>C | |
| XM_017022154.2:c.496-2A>C | XP_016877643.1:n.496-2A>C | |
| XM_017022155.2:c.553-2A>C | XP_016877644.1:n.553-2A>C | |
| XM_017022157.1:c.553-2A>C | XP_016877646.1:n.553-2A>C | |
| XM_017022158.2:c.553-2A>C | XP_016877647.1:n.553-2A>C | |
| XR_001751263.1:n.816-2A>C | ||
| XR_001751264.1:n.857-2A>C | ||
| NM_001159508.3:c.367-2A>C | NP_001152980.2:n.367-2A>C | |
| NM_001354597.3:c.409-2A>C | NP_001341526.1:n.409-2A>C | |
| NM_001354598.3:c.457-2A>C | NP_001341527.2:n.457-2A>C | |
| NM_001354599.3:c.544-2A>C | NP_001341528.2:n.544-2A>C | |
| NM_001354600.3:c.544-2A>C | NP_001341529.2:n.544-2A>C | |
| NM_001354601.3:c.457-2A>C | NP_001341530.2:n.457-2A>C | |
| NM_002225.5:c.457-2A>C MANE Select | NP_002216.3:n.457-2A>C | |
| NR_148925.2:n.869-2A>C |