Linked Data
ClinVar Variation Id:
629406
ClinVar RCV Id:
RCV000774112
dbSNP Id:
rs759590338
ExAC:
6:7585349 C / G
gnomAD v2:
6-7585349-C-G
gnomAD v4:
6-7585116-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585116C>G , CM000668.2:g.7585116C>G | GRCh38 |
| NC_000006.11:g.7585349C>G , CM000668.1:g.7585349C>G | GRCh37 |
| NC_000006.10:g.7530348C>G | NCBI36 |
| NG_008803.1:g.48480C>G , LRG_423:g.48480C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6525C>G | ENSP00000518230.1:p.Pro2175= | |
| ENST00000379802.8:c.7854C>G MANE Select | ENSP00000369129.3:p.Pro2618= | |
| ENST00000379802.7:c.7854C>G | ENSP00000369129.3:p.Pro2618= | |
| ENST00000418664.2:c.6057C>G | ENSP00000396591.2:p.Pro2019= | |
| NM_001008844.1:c.6057C>G | NP_001008844.1:p.Pro2019= | |
| NM_004415.2:c.7854C>G , LRG_423t1:c.7854C>G | NP_004406.2:p.Pro2618= | |
| XM_011514323.1:c.6525C>G | XP_011512625.1:p.Pro2175= | |
| NM_001008844.2:c.6057C>G | NP_001008844.1:p.Pro2019= | |
| NM_001319034.1:c.6525C>G | NP_001305963.1:p.Pro2175= | |
| NM_004415.3:c.7854C>G | NP_004406.2:p.Pro2618= | |
| NM_004415.4:c.7854C>G MANE Select | NP_004406.2:p.Pro2618= | |
| NM_001008844.3:c.6057C>G | NP_001008844.1:p.Pro2019= | |
| NM_001319034.2:c.6525C>G | NP_001305963.1:p.Pro2175= |