Linked Data
ClinVar Variation Id:
761
dbSNP Id:
rs118204044
ExAC:
2:150426603 A / G
gnomAD v2:
2-150426603-A-G
gnomAD v4:
2-149570089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570089A>G , CM000664.2:g.149570089A>G | GRCh38 |
| NC_000002.11:g.150426603A>G , CM000664.1:g.150426603A>G | GRCh37 |
| NC_000002.10:g.150134849A>G | NCBI36 |
| NG_009189.1:g.22728T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.776T>C MANE Select | ENSP00000301920.5:p.Leu259Pro | |
| ENST00000303319.9:c.776T>C | ENSP00000301920.5:p.Leu259Pro | |
| ENST00000422782.2:c.878T>C | ENSP00000408331.2:p.Leu293Pro | |
| ENST00000428879.5:c.776T>C | ENSP00000389060.1:p.Leu259Pro | |
| NM_015702.2:c.776T>C | NP_056517.1:p.Leu259Pro | |
| NM_015702.3:c.776T>C MANE Select | NP_056517.1:p.Leu259Pro |