Linked Data
dbSNP Id:
rs1294826760
gnomAD v2:
11-116652323-G-A
gnomAD v3:
11-116781607-G-A
gnomAD v4:
11-116781607-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116781607G>A , CM000673.2:g.116781607G>A | GRCh38 |
| NC_000011.9:g.116652323G>A , CM000673.1:g.116652323G>A | GRCh37 |
| NC_000011.8:g.116157533G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.1179+551C>T MANE Select | ENSP00000227322.3:n.1179+551C>T | |
| ENST00000227322.7:c.1179+551C>T | ENSP00000227322.3:n.1179+551C>T | |
| ENST00000429220.5:c.958+551C>T | ||
| ENST00000444935.5:c.1091+1312C>T | ||
| NM_003904.3:c.1179+551C>T | NP_003895.1:n.1179+551C>T | |
| NM_001317086.1:c.1017+551C>T | NP_001304015.1:n.1017+551C>T | |
| NM_003904.4:c.1179+551C>T | NP_003895.1:n.1179+551C>T | |
| XR_001748023.2:n.2507+551C>T | ||
| NM_003904.5:c.1179+551C>T MANE Select | NP_003895.1:n.1179+551C>T | |
| NM_001317086.2:c.1017+551C>T | NP_001304015.1:n.1017+551C>T |