Linked Data
dbSNP Id:
rs764282319
ExAC:
1:115220684 G / C
gnomAD v2:
1-115220684-G-C
gnomAD v4:
1-114678063-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114678063G>C , CM000663.2:g.114678063G>C | GRCh38 |
| NC_000001.10:g.115220684G>C , CM000663.1:g.115220684G>C | GRCh37 |
| NC_000001.9:g.115022207G>C | NCBI36 |
| NG_008012.1:g.22493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1081-22C>G | ENSP00000358551.4:n.1081-22C>G | |
| ENST00000520113.7:c.1093-22C>G MANE Select | ENSP00000430075.3:n.1093-22C>G | |
| ENST00000637080.1:c.876-22C>G | ENSP00000489753.1:n.876-22C>G | |
| ENST00000639077.1:n.758-22C>G | ||
| ENST00000369538.3:c.1180-22C>G | ENSP00000358551.3:n.1180-22C>G | |
| ENST00000520113.6:c.1192-22C>G | ENSP00000430075.2:n.1192-22C>G | |
| NM_000036.2:c.1192-22C>G | NP_000027.2:n.1192-22C>G | |
| NM_001172626.1:c.1180-22C>G | NP_001166097.1:n.1180-22C>G | |
| NM_000036.3:c.1093-22C>G MANE Select | NP_000027.3:n.1093-22C>G | |
| NM_001172626.2:c.1081-22C>G | NP_001166097.2:n.1081-22C>G |