Linked Data
dbSNP Id:
rs776720909
ExAC:
10:89268075 A / G
gnomAD v2:
10-89268075-A-G
gnomAD v3:
10-87508318-A-G
gnomAD v4:
10-87508318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87508318A>G , CM000672.2:g.87508318A>G | GRCh38 |
| NC_000010.10:g.89268075A>G , CM000672.1:g.89268075A>G | GRCh37 |
| NC_000010.9:g.89258055A>G | NCBI36 |
| NG_013023.1:g.8853A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371996.9:c.638-18A>G MANE Select | ENSP00000361064.4:n.638-18A>G | |
| ENST00000371994.8:c.638-18A>G | ENSP00000361062.4:n.638-18A>G | |
| ENST00000371996.8:c.638-18A>G | ENSP00000361064.4:n.638-18A>G | |
| ENST00000536010.1:c.35-18A>G | ENSP00000437823.1:n.35-18A>G | |
| NM_001178117.1:c.638-18A>G | NP_001171588.1:n.638-18A>G | |
| NM_001178118.1:c.35-18A>G | NP_001171589.1:n.35-18A>G | |
| NM_004897.4:c.638-18A>G | NP_004888.2:n.638-18A>G | |
| XM_006718078.2:c.638-18A>G | XP_006718141.1:n.638-18A>G | |
| XM_011540379.1:c.35-18A>G | XP_011538681.1:n.35-18A>G | |
| XR_945884.1:n.2762-18A>G | ||
| XM_006718078.3:c.638-18A>G | XP_006718141.1:n.638-18A>G | |
| XM_011540379.3:c.35-18A>G | XP_011538681.1:n.35-18A>G | |
| XM_017016965.2:c.638-18A>G | XP_016872454.1:n.638-18A>G | |
| NM_004897.5:c.638-18A>G MANE Select | NP_004888.2:n.638-18A>G | |
| NM_001178117.2:c.638-18A>G | NP_001171588.1:n.638-18A>G | |
| NM_001178118.2:c.35-18A>G | NP_001171589.1:n.35-18A>G |