Linked Data
dbSNP Id:
rs968741221
gnomAD v2:
11-111957556-C-G
gnomAD v3:
11-112086832-C-G
gnomAD v4:
11-112086832-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086832C>G , CM000673.2:g.112086832C>G | GRCh38 |
| NC_000011.9:g.111957556C>G , CM000673.1:g.111957556C>G | GRCh37 |
| NC_000011.8:g.111462766C>G | NCBI36 |
| NG_012337.2:g.4986C>G | |
| NG_033145.1:g.4967G>C | |
| NG_012337.3:g.4986C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640554.1:c.-76C>G | ENSP00000491141.1:n.-76C>G | |
| ENST00000375549.7:c.-76C>G | ENSP00000364699.3:n.-76C>G | |
| ENST00000614349.4:c.-76C>G | ENSP00000480666.1:n.-76C>G | |
| NM_001276503.1:c.-76C>G | NP_001263432.1:n.-76C>G | |
| NM_001276504.1:c.-76C>G | NP_001263433.1:n.-76C>G | |
| NM_001276506.1:c.-76C>G | NP_001263435.1:n.-76C>G | |
| NM_003002.3:c.-76C>G | NP_002993.1:n.-76C>G | |
| NR_077060.1:n.9C>G |