Linked Data
dbSNP Id:
rs76396200
ExAC:
15:22969154 G / A
gnomAD v2:
15-22969154-G-A
gnomAD v3:
15-22903914-C-T
gnomAD v4:
15-22903914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903914C>T , CM000677.2:g.22903914C>T | GRCh38 |
| NC_000015.9:g.22969154G>A , CM000677.1:g.22969154G>A | GRCh37 |
| NC_000015.8:g.20520595G>A | NCBI36 |
| NG_054889.1:g.81993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2383-9G>A | ENSP00000479802.2:n.2383-9G>A | |
| ENST00000617928.5:c.2389-9G>A MANE Select | ENSP00000481038.1:n.2389-9G>A | |
| ENST00000610365.4:c.2389-9G>A | ENSP00000478779.1:n.2389-9G>A | |
| ENST00000617556.4:c.1096-9G>A | ENSP00000480525.1:n.1096-9G>A | |
| ENST00000617928.4:c.2389-9G>A | ENSP00000481038.1:n.2389-9G>A | |
| ENST00000619290.4:n.782-9G>A | ||
| ENST00000619348.4:n.1527G>A | ||
| NM_001033028.1:c.1096-9G>A | NP_001028200.1:n.1096-9G>A | |
| NM_001287810.1:c.2389-9G>A | NP_001274739.1:n.2389-9G>A | |
| NM_014608.3:c.2389-9G>A | NP_055423.1:n.2389-9G>A | |
| XM_011543873.1:c.2788-9G>A | XP_011542175.1:n.2788-9G>A | |
| XM_011543874.1:c.2788-9G>A | XP_011542176.1:n.2788-9G>A | |
| XM_011543875.1:c.2788-9G>A | XP_011542177.1:n.2788-9G>A | |
| XM_011543876.1:c.2383-9G>A | XP_011542178.1:n.2383-9G>A | |
| NM_001033028.2:c.1096-9G>A | NP_001028200.1:n.1096-9G>A | |
| NM_001287810.3:c.2389-9G>A | NP_001274739.1:n.2389-9G>A | |
| NM_001324119.2:c.2491-9G>A | NP_001311048.1:n.2491-9G>A | |
| NM_001324120.2:c.2389-9G>A | NP_001311049.1:n.2389-9G>A | |
| NM_001324122.2:c.709-9G>A | NP_001311051.1:n.709-9G>A | |
| NM_001324123.2:c.2389-9G>A | NP_001311052.1:n.2389-9G>A | |
| NM_001324124.2:c.2299-9G>A | NP_001311053.1:n.2299-9G>A | |
| NM_001324125.2:c.2023-9G>A | NP_001311054.1:n.2023-9G>A | |
| NM_001324126.2:c.2287-9G>A | NP_001311055.1:n.2287-9G>A | |
| NM_014608.5:c.2389-9G>A | NP_055423.1:n.2389-9G>A | |
| XM_011543873.3:c.2788-9G>A | XP_011542175.1:n.2788-9G>A | |
| XM_011543874.2:c.2788-9G>A | XP_011542176.1:n.2788-9G>A | |
| XM_011543876.3:c.2485-9G>A | XP_011542178.2:n.2485-9G>A | |
| XM_017022023.2:c.2890-9G>A | XP_016877512.1:n.2890-9G>A | |
| XM_017022024.2:c.2788-9G>A | XP_016877513.1:n.2788-9G>A | |
| XM_024449876.1:c.2788-9G>A | XP_024305644.1:n.2788-9G>A | |
| XM_024449877.1:c.2389-9G>A | XP_024305645.1:n.2389-9G>A | |
| NM_014608.6:c.2389-9G>A MANE Select | NP_055423.1:n.2389-9G>A | |
| NM_001287810.4:c.2389-9G>A | NP_001274739.1:n.2389-9G>A | |
| NM_001324122.3:c.709-9G>A | NP_001311051.1:n.709-9G>A | |
| NM_001324123.3:c.2389-9G>A | NP_001311052.1:n.2389-9G>A | |
| NM_001324124.3:c.2299-9G>A | NP_001311053.1:n.2299-9G>A | |
| NM_001324125.3:c.2023-9G>A | NP_001311054.1:n.2023-9G>A | |
| NM_001324126.3:c.2287-9G>A | NP_001311055.1:n.2287-9G>A | |
| NM_001033028.3:c.1096-9G>A | NP_001028200.1:n.1096-9G>A |