Linked Data
dbSNP Id:
rs768009129
ExAC:
2:113514195 G / C
gnomAD v2:
2-113514195-G-C
gnomAD v3:
2-112756618-G-C
gnomAD v4:
2-112756618-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756618G>C , CM000664.2:g.112756618G>C | GRCh38 |
| NC_000002.11:g.113514195G>C , CM000664.1:g.113514195G>C | GRCh37 |
| NC_000002.10:g.113230666G>C | NCBI36 |
| NG_041820.1:g.13060C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.753C>G MANE Select | ENSP00000305204.6:p.Ser251Arg | |
| ENST00000302450.10:c.753C>G | ENSP00000305204.6:p.Ser251Arg | |
| ENST00000435431.5:c.478+275C>G | ENSP00000414834.1:n.478+275C>G | |
| NM_001304361.1:c.258C>G | NP_001291290.1:p.Ser86Arg | |
| NM_152515.4:c.753C>G | NP_689728.3:p.Ser251Arg | |
| NR_130712.1:n.557+275C>G | ||
| XM_011510666.1:c.258C>G | XP_011508968.1:p.Ser86Arg | |
| XM_011510666.2:c.258C>G | XP_011508968.1:p.Ser86Arg | |
| NM_152515.5:c.753C>G MANE Select | NP_689728.3:p.Ser251Arg | |
| NM_001304361.2:c.258C>G | NP_001291290.1:p.Ser86Arg | |
| NR_130712.2:n.489+275C>G |