Linked Data
ClinVar Variation Id:
912320
ClinVar RCV Id:
RCV001165473
dbSNP Id:
rs764045527
ExAC:
9:136509401 T / G
gnomAD v2:
9-136509401-T-G
gnomAD v3:
9-133644279-T-G
gnomAD v4:
9-133644279-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644279T>G , CM000671.2:g.133644279T>G | GRCh38 |
| NC_000009.11:g.136509401T>G , CM000671.1:g.136509401T>G | GRCh37 |
| NC_000009.10:g.135499222T>G | NCBI36 |
| NG_008645.1:g.12917T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.983T>G MANE Select | ENSP00000376776.2:p.Leu328Arg | |
| ENST00000393056.6:c.983T>G | ENSP00000376776.2:p.Leu328Arg | |
| NM_000787.3:c.983T>G | NP_000778.3:p.Leu328Arg | |
| NM_000787.4:c.983T>G MANE Select | NP_000778.3:p.Leu328Arg |