Linked Data
ClinVar Variation Id:
2709670
ClinVar RCV Id:
RCV003583371
MyVariant Identifiers:
chr1:g.32740661G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32275060G>C , CM000663.2:g.32275060G>C | GRCh38 |
| NC_000001.10:g.32740661G>C , CM000663.1:g.32740661G>C | GRCh37 |
| NC_000001.9:g.32513248G>C | NCBI36 |
| NG_023387.1:g.28822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355928.8:n.541G>C | ||
| ENST00000482949.6:c.429G>C | ENSP00000431517.2:p.Gly143= | |
| ENST00000495610.7:c.255G>C | ENSP00000435605.2:p.Gly85= | |
| ENST00000696990.1:c.187+242G>C | ENSP00000513026.1:n.187+242G>C | |
| ENST00000336890.10:c.255G>C MANE Select | ENSP00000337825.5:p.Gly85= | |
| ENST00000333070.4:c.255G>C | ENSP00000328213.4:p.Gly85= | |
| ENST00000336890.9:c.255G>C | ENSP00000337825.5:p.Gly85= | |
| ENST00000355928.7:n.531G>C | ||
| ENST00000373557.6:c.387G>C | ENSP00000362658.2:p.Gly129= | |
| ENST00000373562.7:c.255G>C | ENSP00000362663.3:p.Gly85= | |
| ENST00000373564.7:c.429G>C | ENSP00000362665.3:p.Gly143= | |
| ENST00000461712.6:c.429G>C | ENSP00000434525.1:p.Gly143= | |
| ENST00000469765.5:n.314G>C | ||
| ENST00000476457.5:n.334G>C | ||
| ENST00000482949.5:c.429G>C | ENSP00000431517.1:p.Gly143= | |
| ENST00000495610.6:c.255G>C | ENSP00000435605.1:p.Gly85= | |
| ENST00000619559.4:c.255G>C | ENSP00000477713.1:p.Gly85= | |
| NM_001042771.2:c.255G>C | NP_001036236.1:p.Gly85= | |
| NM_005356.4:c.255G>C | NP_005347.3:p.Gly85= | |
| XM_011541453.1:c.429G>C | XP_011539755.1:p.Gly143= | |
| XM_011541454.1:c.429G>C | XP_011539756.1:p.Gly143= | |
| XM_011541455.1:c.255G>C | XP_011539757.1:p.Gly85= | |
| NM_001330468.1:c.255G>C | NP_001317397.1:p.Gly85= | |
| XM_011541453.3:c.429G>C | XP_011539755.1:p.Gly143= | |
| XM_024447046.1:c.429G>C | XP_024302814.1:p.Gly143= | |
| XM_024447047.1:c.429G>C | XP_024302815.1:p.Gly143= | |
| NM_005356.5:c.255G>C MANE Select | NP_005347.3:p.Gly85= | |
| NM_001330468.2:c.255G>C | NP_001317397.1:p.Gly85= | |
| NM_001042771.3:c.255G>C | NP_001036236.1:p.Gly85= |