Linked Data
dbSNP Id:
rs777384250
ExAC:
1:116311019 T / G
gnomAD v2:
1-116311019-T-G
gnomAD v4:
1-115768398-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768398T>G , CM000663.2:g.115768398T>G | GRCh38 |
| NC_000001.10:g.116311019T>G , CM000663.1:g.116311019T>G | GRCh37 |
| NC_000001.9:g.116112542T>G | NCBI36 |
| NG_008802.1:g.5408A>C , LRG_404:g.5408A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-133A>C | ENSP00000518226.1:n.-133A>C | |
| ENST00000261448.6:c.144A>C MANE Select | ENSP00000261448.5:p.Lys48Asn | |
| ENST00000261448.5:c.144A>C | ENSP00000261448.5:p.Lys48Asn | |
| NM_001232.3:c.144A>C , LRG_404t1:c.144A>C | NP_001223.2:p.Lys48Asn | |
| NM_001232.4:c.144A>C MANE Select | NP_001223.2:p.Lys48Asn |