Linked Data
ClinVar Variation Id:
2689121
ClinVar RCV Id:
RCV003486085
dbSNP Id:
rs138321238
ExAC:
6:53363725 G / C
gnomAD v2:
6-53363725-G-C
gnomAD v3:
6-53498927-G-C
gnomAD v4:
6-53498927-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53498927G>C , CM000668.2:g.53498927G>C | GRCh38 |
| NC_000006.11:g.53363725G>C , CM000668.1:g.53363725G>C | GRCh37 |
| NC_000006.10:g.53471684G>C | NCBI36 |
| NG_012071.1:g.51107C>G | |
| NG_012071.2:g.51203C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1629C>G (GCLC) | ENSP00000424211.2:p.Ile543Met | |
| ENST00000616923.5:c.1584C>G (GCLC) | ENSP00000482756.2:p.Ile528Met | |
| ENST00000643939.1:c.1749C>G (GCLC) | ENSP00000495686.1:p.Ile583Met | |
| ENST00000650454.1:c.1743C>G (GCLC) MANE Select | ENSP00000497574.1:p.Ile581Met | |
| ENST00000229416.10:c.1743C>G (GCLC) | ENSP00000229416.6:p.Ile581Met | |
| ENST00000509541.5:n.2188C>G (GCLC) | ||
| ENST00000510837.5:n.621C>G (GCLC) | ||
| ENST00000515580.1:n.1347C>G (GCLC) | ||
| ENST00000616923.4:c.1629C>G (GCLC) | ENSP00000482756.1:p.Ile543Met | |
| NM_001197115.1:c.1629C>G (GCLC) | NP_001184044.1:p.Ile543Met | |
| NM_001498.3:c.1743C>G (GCLC) | NP_001489.1:p.Ile581Met | |
| XR_926888.1:n.87-7227G>C (GCLC-AS1) | ||
| XR_926889.1:n.55+5291G>C (GCLC-AS1) | ||
| NM_001498.4:c.1743C>G (GCLC) MANE Select | NP_001489.1:p.Ile581Met | |
| XM_017010749.1:c.1032C>G (GCLC) | XP_016866238.1:p.Ile344Met | |
| NM_001197115.2:c.1629C>G (GCLC) | NP_001184044.1:p.Ile543Met |