Linked Data
dbSNP Id:
rs17006206
gnomAD v2:
2-27907473-A-G
gnomAD v3:
2-27684606-A-G
gnomAD v4:
2-27684606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27684606A>G , CM000664.2:g.27684606A>G | GRCh38 |
| NC_000002.11:g.27907473A>G , CM000664.1:g.27907473A>G | GRCh37 |
| NC_000002.10:g.27760977A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326019.11:c.1714-431A>G MANE Select | ENSP00000323837.7:n.1714-431A>G | |
| ENST00000613517.5:c.1186-431A>G | ENSP00000480182.2:n.1186-431A>G | |
| ENST00000696011.1:c.1714-431A>G | ENSP00000512327.1:n.1714-431A>G | |
| ENST00000696012.1:c.1714-434A>G | ENSP00000512328.1:n.1714-434A>G | |
| ENST00000696013.1:c.*444-431A>G | ENSP00000512329.1:n.*444-431A>G | |
| ENST00000696014.1:c.*444-431A>G | ENSP00000512330.1:n.*444-431A>G | |
| ENST00000696015.1:c.1012-431A>G | ENSP00000512331.1:n.1012-431A>G | |
| ENST00000326019.10:c.1876-431A>G | ENSP00000323837.6:n.1876-431A>G | |
| ENST00000613058.4:c.1876-431A>G | ENSP00000479964.1:n.1876-431A>G | |
| ENST00000618046.4:c.1714-431A>G | ENSP00000483501.1:n.1714-431A>G | |
| NM_018158.2:c.1876-431A>G | NP_060628.2:n.1876-431A>G | |
| NM_018158.3:c.1714-431A>G MANE Select | NP_060628.3:n.1714-431A>G |