Linked Data
dbSNP Id:
rs1056590929
gnomAD v2:
10-13167932-A-G
gnomAD v3:
10-13125932-A-G
gnomAD v4:
10-13125932-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13125932A>G , CM000672.2:g.13125932A>G | GRCh38 |
| NC_000010.10:g.13167932A>G , CM000672.1:g.13167932A>G | GRCh37 |
| NC_000010.9:g.13207938A>G | NCBI36 |
| NG_012876.1:g.30851A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1149-14A>G MANE Select | ENSP00000368021.3:n.1149-14A>G | |
| ENST00000263036.9:c.1149-14A>G | ENSP00000263036.3:n.1149-14A>G | |
| ENST00000378747.7:c.1149-14A>G | ENSP00000368021.3:n.1149-14A>G | |
| ENST00000378748.7:c.1149-14A>G | ENSP00000368022.3:n.1149-14A>G | |
| ENST00000378752.7:c.1131-14A>G | ENSP00000368027.3:n.1131-14A>G | |
| ENST00000378757.6:c.1149-14A>G | ENSP00000368032.2:n.1149-14A>G | |
| ENST00000378764.6:c.1131-14A>G | ENSP00000368040.1:n.1131-14A>G | |
| NM_001008211.1:c.1149-14A>G | NP_001008212.1:n.1149-14A>G | |
| NM_001008212.1:c.1149-14A>G | NP_001008213.1:n.1149-14A>G | |
| NM_001008213.1:c.1149-14A>G | NP_001008214.1:n.1149-14A>G | |
| NM_021980.4:c.1149-14A>G | NP_068815.2:n.1149-14A>G | |
| XM_005252336.2:c.1131-14A>G | XP_005252393.2:n.1131-14A>G | |
| XM_005252337.3:c.1131-14A>G | XP_005252394.2:n.1131-14A>G | |
| XM_005252338.2:c.978-14A>G | XP_005252395.2:n.978-14A>G | |
| NM_001008212.2:c.1149-14A>G MANE Select | NP_001008213.1:n.1149-14A>G |