Linked Data
dbSNP Id:
rs542355923
ExAC:
8:118849487 T / C
gnomAD v2:
8-118849487-T-C
gnomAD v3:
8-117837248-T-C
gnomAD v4:
8-117837248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837248T>C , CM000670.2:g.117837248T>C | GRCh38 |
| NC_000008.10:g.118849487T>C , CM000670.1:g.118849487T>C | GRCh37 |
| NC_000008.9:g.118918668T>C | NCBI36 |
| NG_007455.2:g.279572A>G , LRG_493:g.279572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.430-47A>G | ||
| ENST00000378204.7:c.963-47A>G MANE Select | ENSP00000367446.3:n.963-47A>G | |
| ENST00000436216.2:c.331-47A>G | ||
| ENST00000378204.6:c.963-47A>G | ENSP00000367446.2:n.963-47A>G | |
| ENST00000436216.1:c.331-47A>G | ||
| ENST00000437196.1:c.74-1697A>G | ENSP00000407299.1:n.74-1697A>G | |
| NM_000127.2:c.963-47A>G , LRG_493t1:c.963-47A>G | NP_000118.2:n.963-47A>G | |
| NM_000127.3:c.963-47A>G MANE Select | NP_000118.2:n.963-47A>G |