Linked Data
dbSNP Id:
rs1216446624
gnomAD v3:
1-119975208-G-A
gnomAD v4:
1-119975208-G-A
MyVariant Identifiers:
chr1:g.119975208G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119975208G>A , CM000663.2:g.119975208G>A | GRCh38 |
| NC_000001.10:g.120517831G>A , CM000663.1:g.120517831G>A | GRCh37 |
| NC_000001.9:g.120319354G>A | NCBI36 |
| NG_008163.1:g.99446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.875-5464C>T MANE Select | ENSP00000256646.2:n.875-5464C>T | |
| ENST00000640021.1:c.94+1142C>T | ENSP00000492223.1:n.94+1142C>T | |
| ENST00000256646.6:c.875-5464C>T | ENSP00000256646.2:n.875-5464C>T | |
| ENST00000479412.2:n.1013-5464C>T | ||
| ENST00000579475.7:c.758-5464C>T | ENSP00000477065.2:n.758-5464C>T | |
| NM_001200001.1:c.875-5464C>T | NP_001186930.1:n.875-5464C>T | |
| NM_024408.3:c.875-5464C>T | NP_077719.2:n.875-5464C>T | |
| XM_005270901.2:c.758-5464C>T | XP_005270958.1:n.758-5464C>T | |
| XM_011541519.1:c.863-5464C>T | XP_011539821.1:n.863-5464C>T | |
| XM_011541520.1:c.758-5464C>T | XP_011539822.1:n.758-5464C>T | |
| NM_024408.4:c.875-5464C>T MANE Select | NP_077719.2:n.875-5464C>T | |
| NM_001200001.2:c.875-5464C>T | NP_001186930.1:n.875-5464C>T |