Linked Data
dbSNP Id:
rs7099380
gnomAD v2:
10-18549016-G-A
gnomAD v3:
10-18260087-G-A
gnomAD v4:
10-18260087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18260087G>A , CM000672.2:g.18260087G>A | GRCh38 |
| NC_000010.10:g.18549016G>A , CM000672.1:g.18549016G>A | GRCh37 |
| NC_000010.9:g.18589022G>A | NCBI36 |
| NG_016195.1:g.124411G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645287.2:c.129+109112G>A | ENSP00000496203.1:n.129+109112G>A | |
| ENST00000282343.13:c.129+109112G>A | ENSP00000282343.8:n.129+109112G>A | |
| ENST00000324631.13:c.213+109112G>A MANE Select | ENSP00000320025.8:n.213+109112G>A | |
| ENST00000643096.2:c.129+109112G>A | ENSP00000494209.2:n.129+109112G>A | |
| ENST00000644004.1:c.129+109112G>A | ENSP00000495509.1:n.129+109112G>A | |
| ENST00000645287.1:c.129+109112G>A | ENSP00000496203.1:n.129+109112G>A | |
| ENST00000282343.12:c.129+109112G>A | ENSP00000282343.8:n.129+109112G>A | |
| ENST00000324631.11:c.213+109112G>A | ENSP00000320025.7:n.213+109112G>A | |
| ENST00000352115.10:c.213+109112G>A | ENSP00000344474.6:n.213+109112G>A | |
| ENST00000377328.5:c.213+109112G>A | ENSP00000366545.1:n.213+109112G>A | |
| ENST00000377331.6:c.129+109112G>A | ENSP00000366548.2:n.129+109112G>A | |
| NM_001167945.1:c.129+109112G>A | NP_001161417.1:n.129+109112G>A | |
| NM_201571.3:c.129+109112G>A | NP_963865.2:n.129+109112G>A | |
| NM_201572.3:c.129+109112G>A | NP_963866.2:n.129+109112G>A | |
| NM_201593.2:c.213+109112G>A | NP_963887.2:n.213+109112G>A | |
| NM_201596.2:c.213+109112G>A | NP_963890.2:n.213+109112G>A | |
| NM_201597.2:c.213+109112G>A | NP_963891.1:n.213+109112G>A | |
| XR_001747198.1:n.390+109112G>A | ||
| XR_001747681.1:n.339+1079C>T | ||
| NM_001167945.2:c.129+109112G>A | NP_001161417.1:n.129+109112G>A | |
| NM_201571.4:c.129+109112G>A | NP_963865.2:n.129+109112G>A | |
| NM_201572.4:c.129+109112G>A | NP_963866.2:n.129+109112G>A | |
| NM_201593.3:c.213+109112G>A | NP_963887.2:n.213+109112G>A | |
| NM_201596.3:c.213+109112G>A MANE Select | NP_963890.2:n.213+109112G>A | |
| NM_201597.3:c.213+109112G>A | NP_963891.1:n.213+109112G>A |