Linked Data
dbSNP Id:
rs762846592
ExAC:
6:24777496 A / G
gnomAD v2:
6-24777496-A-G
gnomAD v4:
6-24777268-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24777268A>G , CM000668.2:g.24777268A>G | GRCh38 |
| NC_000006.11:g.24777496A>G , CM000668.1:g.24777496A>G | GRCh37 |
| NC_000006.10:g.24885475A>G | NCBI36 |
| NG_030440.1:g.7338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230056.8:c.22A>G MANE Select | ENSP00000230056.3:p.Lys8Glu | |
| ENST00000230056.7:c.22A>G | ENSP00000230056.3:p.Lys8Glu | |
| ENST00000356509.7:c.22A>G | ENSP00000348902.3:p.Lys8Glu | |
| ENST00000378054.6:c.22A>G | ENSP00000367293.2:p.Lys8Glu | |
| ENST00000378059.3:c.22A>G | ENSP00000367298.3:p.Lys8Glu | |
| ENST00000468943.1:n.211A>G | ||
| ENST00000476555.5:c.22A>G | ENSP00000419584.1:p.Lys8Glu | |
| ENST00000620958.4:c.22A>G | ENSP00000477506.1:p.Lys8Glu | |
| NM_001251989.1:c.22A>G | NP_001238918.1:p.Lys8Glu | |
| NM_001251990.1:c.22A>G | NP_001238919.1:p.Lys8Glu | |
| NM_001251991.1:c.22A>G | NP_001238920.1:p.Lys8Glu | |
| NM_015895.4:c.22A>G | NP_056979.1:p.Lys8Glu | |
| XM_005249159.1:c.22A>G | XP_005249216.1:p.Lys8Glu | |
| XM_005249159.2:c.22A>G | XP_005249216.1:p.Lys8Glu | |
| NM_015895.5:c.22A>G MANE Select | NP_056979.1:p.Lys8Glu | |
| NM_001251989.2:c.22A>G | NP_001238918.1:p.Lys8Glu | |
| NM_001251990.2:c.22A>G | NP_001238919.1:p.Lys8Glu |