Linked Data
ClinVar Variation Id:
357670
ClinVar RCV Id:
RCV000361339
dbSNP Id:
rs138943514
ExAC:
6:6167739 C / G
gnomAD v2:
6-6167739-C-G
gnomAD v3:
6-6167506-C-G
gnomAD v4:
6-6167506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6167506C>G , CM000668.2:g.6167506C>G | GRCh38 |
| NC_000006.11:g.6167739C>G , CM000668.1:g.6167739C>G | GRCh37 |
| NC_000006.10:g.6112738C>G | NCBI36 |
| NG_008107.1:g.158186G>C , LRG_549:g.158186G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.1860G>C MANE Select | ENSP00000264870.3:p.Leu620= | |
| ENST00000264870.7:c.1860G>C | ENSP00000264870.3:p.Leu620= | |
| NM_000129.3:c.1860G>C , LRG_549t1:c.1860G>C | NP_000120.2:p.Leu620= | |
| XM_006715010.2:c.1860G>C | XP_006715073.1:p.Leu620= | |
| XM_011514342.1:c.2022G>C | XP_011512644.1:p.Leu674= | |
| NM_000129.4:c.1860G>C MANE Select | NP_000120.2:p.Leu620= |