Linked Data
dbSNP Id:
rs753126504
ExAC:
8:119122453 T / G
gnomAD v2:
8-119122453-T-G
gnomAD v4:
8-118110214-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110214T>G , CM000670.2:g.118110214T>G | GRCh38 |
| NC_000008.10:g.119122453T>G , CM000670.1:g.119122453T>G | GRCh37 |
| NC_000008.9:g.119191634T>G | NCBI36 |
| NG_007455.2:g.6606A>C , LRG_493:g.6606A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.833A>C MANE Select | ENSP00000367446.3:p.Asp278Ala | |
| ENST00000436216.2:c.201A>C | ||
| ENST00000378204.6:c.833A>C | ENSP00000367446.2:p.Asp278Ala | |
| ENST00000436216.1:c.201A>C | ||
| ENST00000437196.1:c.73+760A>C | ENSP00000407299.1:n.73+760A>C | |
| NM_000127.2:c.833A>C , LRG_493t1:c.833A>C | NP_000118.2:p.Asp278Ala | |
| NM_000127.3:c.833A>C MANE Select | NP_000118.2:p.Asp278Ala |