Linked Data
dbSNP Id:
rs759910721
ExAC:
16:3077133 T / G
gnomAD v2:
16-3077133-T-G
gnomAD v4:
16-3027132-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3027132T>G , CM000678.2:g.3027132T>G | GRCh38 |
| NC_000016.9:g.3077133T>G , CM000678.1:g.3077133T>G | GRCh37 |
| NC_000016.8:g.3017134T>G | NCBI36 |
| NG_052595.1:g.8114T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326266.13:c.700-38T>G MANE Select | ENSP00000326531.8:n.700-38T>G | |
| ENST00000253952.9:c.700-38T>G | ENSP00000253952.9:n.700-38T>G | |
| ENST00000326266.12:c.700-38T>G | ENSP00000326531.8:n.700-38T>G | |
| ENST00000574549.5:c.628-38T>G | ENSP00000458295.1:n.628-38T>G | |
| ENST00000575576.5:c.628-38T>G | ENSP00000460015.1:n.628-38T>G | |
| NM_001142350.1:c.700-38T>G | NP_001135822.1:n.700-38T>G | |
| NM_024339.3:c.700-38T>G | NP_077315.2:n.700-38T>G | |
| NM_001142350.2:c.700-38T>G | NP_001135822.1:n.700-38T>G | |
| NM_001347703.1:c.628-38T>G | NP_001334632.1:n.628-38T>G | |
| NM_001347704.1:c.700-38T>G | NP_001334633.1:n.700-38T>G | |
| NM_024339.4:c.700-38T>G | NP_077315.2:n.700-38T>G | |
| NM_024339.5:c.700-38T>G MANE Select | NP_077315.2:n.700-38T>G | |
| NM_001142350.3:c.700-38T>G | NP_001135822.1:n.700-38T>G | |
| NM_001347703.2:c.628-38T>G | NP_001334632.1:n.628-38T>G | |
| NM_001347704.2:c.700-38T>G | NP_001334633.1:n.700-38T>G |