Linked Data
dbSNP Id:
rs747786855
ExAC:
3:48606313 T / C
gnomAD v2:
3-48606313-T-C
gnomAD v3:
3-48568880-T-C
gnomAD v4:
3-48568880-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568880T>C , CM000665.2:g.48568880T>C | GRCh38 |
| NC_000003.11:g.48606313T>C , CM000665.1:g.48606313T>C | GRCh37 |
| NC_000003.10:g.48581317T>C | NCBI36 |
| NG_007065.1:g.31373A>G , LRG_286:g.31373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7687-25A>G MANE Select | ENSP00000506558.1:n.7687-25A>G | |
| ENST00000328333.12:c.7687-25A>G | ENSP00000332371.8:n.7687-25A>G | |
| ENST00000459756.5:n.510-25A>G | ||
| ENST00000467985.1:n.533-25A>G | ||
| ENST00000487017.5:n.4326-25A>G | ||
| NM_000094.3:c.7687-25A>G , LRG_286t1:c.7687-25A>G | NP_000085.1:n.7687-25A>G | |
| XM_011533336.1:c.7714-25A>G | XP_011531638.1:n.7714-25A>G | |
| XM_011533337.1:c.7687-25A>G | XP_011531639.1:n.7687-25A>G | |
| XM_011533338.1:c.7654-25A>G | XP_011531640.1:n.7654-25A>G | |
| XM_011533339.1:c.7714-25A>G | XP_011531641.1:n.7714-25A>G | |
| XR_940369.1:n.7750-25A>G | ||
| XR_940370.1:n.7750-25A>G | ||
| XR_940371.1:n.7750-25A>G | ||
| XR_940372.1:n.7724-25A>G | ||
| XM_017005688.1:c.7627-25A>G | XP_016861177.1:n.7627-25A>G | |
| XM_017005689.1:c.7687-25A>G | XP_016861178.1:n.7687-25A>G | |
| XR_001740003.1:n.7723-25A>G | ||
| XR_001740004.1:n.7723-25A>G | ||
| XR_001740005.1:n.7723-25A>G | ||
| XR_001740006.1:n.7697-25A>G | ||
| NM_000094.4:c.7687-25A>G MANE Select | NP_000085.1:n.7687-25A>G |