Linked Data
ClinVar Variation Id:
1165041
dbSNP Id:
rs8061877
ExAC:
16:28856819 C / T
gnomAD v2:
16-28856819-C-T
gnomAD v3:
16-28845498-C-T
gnomAD v4:
16-28845498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845498C>T , CM000678.2:g.28845498C>T | GRCh38 |
| NC_000016.9:g.28856819C>T , CM000678.1:g.28856819C>T | GRCh37 |
| NC_000016.8:g.28764320C>T | NCBI36 |
| NG_008964.1:g.5911G>A | |
| NG_029706.2:g.3899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.248-18G>A MANE Select | ENSP00000322439.3:n.248-18G>A | |
| ENST00000313511.7:c.248-18G>A | ENSP00000322439.3:n.248-18G>A | |
| ENST00000565012.1:c.247+414G>A | ENSP00000455007.1:n.247+414G>A | |
| NM_003321.4:c.248-18G>A | NP_003312.3:n.248-18G>A | |
| XM_011545928.1:c.248-18G>A | XP_011544230.1:n.248-18G>A | |
| NM_001365360.1:c.248-18G>A | NP_001352289.1:n.248-18G>A | |
| NM_003321.5:c.248-18G>A MANE Select | NP_003312.3:n.248-18G>A | |
| NM_001365360.2:c.248-18G>A | NP_001352289.1:n.248-18G>A |