Linked Data
ClinVar Variation Id:
421271
ClinVar RCV Id:
RCV000478425
dbSNP Id:
rs1064795024
gnomAD v4:
6-100390539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100390539T>C , CM000668.2:g.100390539T>C | GRCh38 |
| NC_000006.11:g.100838415T>C , CM000668.1:g.100838415T>C | GRCh37 |
| NC_000006.10:g.100945136T>C | NCBI36 |
| NG_008230.1:g.78137A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369208.8:c.2123A>G MANE Select | ENSP00000358210.4:p.Lys708Arg | |
| ENST00000262901.4:c.2123A>G | ENSP00000262901.4:p.Lys708Arg | |
| ENST00000369208.7:c.2123A>G | ENSP00000358210.3:p.Lys708Arg | |
| NM_005068.2:c.2123A>G | NP_005059.2:p.Lys708Arg | |
| XM_005267100.2:c.2123A>G | XP_005267157.1:p.Lys708Arg | |
| XM_017011197.1:c.2123A>G | XP_016866686.1:p.Lys708Arg | |
| NM_001374769.1:c.2123A>G | NP_001361698.1:p.Lys708Arg | |
| NM_005068.3:c.2123A>G MANE Select | NP_005059.2:p.Lys708Arg |