Linked Data
ClinVar Variation Id:
8373
dbSNP Id:
rs121909353
ExAC:
8:97156888 T / C
gnomAD v2:
8-97156888-T-C
gnomAD v3:
8-96144660-T-C
gnomAD v4:
8-96144660-T-C
PubMed:
PMID:19129173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144660T>C , CM000670.2:g.96144660T>C | GRCh38 |
| NC_000008.10:g.97156888T>C , CM000670.1:g.97156888T>C | GRCh37 |
| NC_000008.9:g.97226064T>C | NCBI36 |
| NG_008981.1:g.21133A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287020.7:c.1271A>G MANE Select | ENSP00000287020.4:p.Lys424Arg | |
| ENST00000287020.6:c.1271A>G | ENSP00000287020.4:p.Lys424Arg | |
| ENST00000620978.1:c.811A>G | ENSP00000480170.1:p.Asn271Asp | |
| ENST00000621429.1:c.1020A>G | ENSP00000483711.1:p.Gln340= | |
| NM_001001557.2:c.1271A>G | NP_001001557.1:p.Lys424Arg | |
| XM_011517030.1:c.872A>G | XP_011515332.1:p.Lys291Arg | |
| NM_001001557.3:c.1271A>G | NP_001001557.1:p.Lys424Arg | |
| NM_001001557.4:c.1271A>G MANE Select | NP_001001557.1:p.Lys424Arg |