Linked Data
ClinVar Variation Id:
487797
ClinVar RCV Id:
RCV000577865
dbSNP Id:
rs750318192
ExAC:
6:150001239 C / G
gnomAD v2:
6-150001239-C-G
gnomAD v3:
6-149680103-C-G
gnomAD v4:
6-149680103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149680103C>G , CM000668.2:g.149680103C>G | GRCh38 |
| NC_000006.11:g.150001239C>G , CM000668.1:g.150001239C>G | GRCh37 |
| NC_000006.10:g.150042932C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543571.6:c.2365G>C MANE Select | ENSP00000437550.1:p.Asp789His | |
| ENST00000253339.9:c.2365G>C | ENSP00000253339.5:p.Asp789His | |
| ENST00000441107.5:c.*2052G>C | ENSP00000403815.1:n.*2052G>C | |
| ENST00000542747.5:n.2202G>C | ||
| ENST00000543571.5:c.2365G>C | ENSP00000437550.1:p.Asp789His | |
| NM_004690.3:c.2365G>C | NP_004681.1:p.Asp789His | |
| NR_073033.1:n.2819G>C | ||
| XM_006715603.2:c.2365G>C | XP_006715666.1:p.Asp789His | |
| XM_011536250.1:c.2365G>C | XP_011534552.1:p.Asp789His | |
| XM_011536251.1:c.2050G>C | XP_011534553.1:p.Asp684His | |
| XM_011536252.1:c.2365G>C | XP_011534554.1:p.Asp789His | |
| NM_001350339.1:c.2050G>C | NP_001337268.1:p.Asp684His | |
| NM_001350340.1:c.2050G>C | NP_001337269.1:p.Asp684His | |
| NM_001350392.1:c.1525G>C | NP_001337321.1:p.Asp509His | |
| XM_006715603.3:c.2365G>C | XP_006715666.1:p.Asp789His | |
| XM_011536252.2:c.2365G>C | XP_011534554.1:p.Asp789His | |
| XM_017011474.1:c.2365G>C | XP_016866963.1:p.Asp789His | |
| XM_017011477.1:c.2365G>C | XP_016866966.1:p.Asp789His | |
| XM_017011479.1:c.2365G>C | XP_016866968.1:p.Asp789His | |
| XM_017011480.1:c.1525G>C | XP_016866969.1:p.Asp509His | |
| XM_024446583.1:c.2365G>C | XP_024302351.1:p.Asp789His | |
| NM_004690.4:c.2365G>C MANE Select | NP_004681.1:p.Asp789His | |
| NM_001350339.2:c.2050G>C | NP_001337268.1:p.Asp684His | |
| NM_001350340.2:c.2050G>C | NP_001337269.1:p.Asp684His | |
| NM_001350392.2:c.1525G>C | NP_001337321.1:p.Asp509His | |
| NR_073033.2:n.2819G>C |