Linked Data
ClinVar Variation Id:
2560211
ClinVar RCV Id:
RCV004326032
dbSNP Id:
rs1002750147
gnomAD v2:
12-113905130-T-G
gnomAD v4:
12-113467325-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113467325T>G , CM000674.2:g.113467325T>G | GRCh38 |
| NC_000012.11:g.113905130T>G , CM000674.1:g.113905130T>G | GRCh37 |
| NC_000012.10:g.112389513T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261731.4:c.772A>C MANE Select | ENSP00000261731.2:p.Met258Leu | |
| ENST00000261731.3:c.772A>C | ENSP00000261731.2:p.Met258Leu | |
| NM_022363.2:c.772A>C | NP_071758.1:p.Met258Leu | |
| NM_022363.3:c.772A>C MANE Select | NP_071758.1:p.Met258Leu |