Linked Data
dbSNP Id:
rs760352581
ExAC:
2:150426630 C / T
gnomAD v2:
2-150426630-C-T
gnomAD v3:
2-149570116-C-T
gnomAD v4:
2-149570116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570116C>T , CM000664.2:g.149570116C>T | GRCh38 |
| NC_000002.11:g.150426630C>T , CM000664.1:g.150426630C>T | GRCh37 |
| NC_000002.10:g.150134876C>T | NCBI36 |
| NG_009189.1:g.22701G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.749G>A MANE Select | ENSP00000301920.5:p.Arg250Gln | |
| ENST00000303319.9:c.749G>A | ENSP00000301920.5:p.Arg250Gln | |
| ENST00000422782.2:c.851G>A | ENSP00000408331.2:p.Arg284Gln | |
| ENST00000428879.5:c.749G>A | ENSP00000389060.1:p.Arg250Gln | |
| NM_015702.2:c.749G>A | NP_056517.1:p.Arg250Gln | |
| NM_015702.3:c.749G>A MANE Select | NP_056517.1:p.Arg250Gln |