Linked Data
ClinVar Variation Id:
1607276
ClinVar RCV Id:
RCV002152366
dbSNP Id:
rs778282815
ExAC:
16:28856656 C / T
gnomAD v2:
16-28856656-C-T
gnomAD v3:
16-28845335-C-T
gnomAD v4:
16-28845335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845335C>T , CM000678.2:g.28845335C>T | GRCh38 |
| NC_000016.9:g.28856656C>T , CM000678.1:g.28856656C>T | GRCh37 |
| NC_000016.8:g.28764157C>T | NCBI36 |
| NG_008964.1:g.6074G>A | |
| NG_029706.2:g.3736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.393G>A MANE Select | ENSP00000322439.3:p.Pro131= | |
| ENST00000313511.7:c.393G>A | ENSP00000322439.3:p.Pro131= | |
| ENST00000565012.1:c.248-280G>A | ENSP00000455007.1:n.248-280G>A | |
| NM_003321.4:c.393G>A | NP_003312.3:p.Pro131= | |
| XM_011545928.1:c.393G>A | XP_011544230.1:p.Pro131= | |
| NM_001365360.1:c.393G>A | NP_001352289.1:p.Pro131= | |
| NM_003321.5:c.393G>A MANE Select | NP_003312.3:p.Pro131= | |
| NM_001365360.2:c.393G>A | NP_001352289.1:p.Pro131= |