Linked Data
dbSNP Id:
rs181867467
gnomAD v2:
11-116652167-T-C
gnomAD v3:
11-116781451-T-C
gnomAD v4:
11-116781451-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116781451T>C , CM000673.2:g.116781451T>C | GRCh38 |
| NC_000011.9:g.116652167T>C , CM000673.1:g.116652167T>C | GRCh37 |
| NC_000011.8:g.116157377T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.1179+707A>G MANE Select | ENSP00000227322.3:n.1179+707A>G | |
| ENST00000227322.7:c.1179+707A>G | ENSP00000227322.3:n.1179+707A>G | |
| ENST00000429220.5:c.958+707A>G | ||
| ENST00000444935.5:c.1091+1468A>G | ||
| NM_003904.3:c.1179+707A>G | NP_003895.1:n.1179+707A>G | |
| NM_001317086.1:c.1017+707A>G | NP_001304015.1:n.1017+707A>G | |
| NM_003904.4:c.1179+707A>G | NP_003895.1:n.1179+707A>G | |
| XR_001748023.2:n.2507+707A>G | ||
| NM_003904.5:c.1179+707A>G MANE Select | NP_003895.1:n.1179+707A>G | |
| NM_001317086.2:c.1017+707A>G | NP_001304015.1:n.1017+707A>G |