Linked Data
ClinVar Variation Id:
1951629
ClinVar RCV Id:
RCV002686307
dbSNP Id:
rs766033696
ExAC:
6:53365026 T / C
gnomAD v2:
6-53365026-T-C
gnomAD v3:
6-53500228-T-C
gnomAD v4:
6-53500228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53500228T>C , CM000668.2:g.53500228T>C | GRCh38 |
| NC_000006.11:g.53365026T>C , CM000668.1:g.53365026T>C | GRCh37 |
| NC_000006.10:g.53472985T>C | NCBI36 |
| NG_012071.1:g.49806A>G | |
| NG_012071.2:g.49902A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1467+19A>G (GCLC) | ENSP00000424211.2:n.1467+19A>G | |
| ENST00000616923.5:c.1422+19A>G (GCLC) | ENSP00000482756.2:n.1422+19A>G | |
| ENST00000643939.1:c.1587+19A>G (GCLC) | ENSP00000495686.1:n.1587+19A>G | |
| ENST00000650454.1:c.1581+19A>G (GCLC) MANE Select | ENSP00000497574.1:n.1581+19A>G | |
| ENST00000229416.10:c.1581+19A>G (GCLC) | ENSP00000229416.6:n.1581+19A>G | |
| ENST00000504353.1:n.569A>G (GCLC) | ||
| ENST00000509541.5:n.2026+19A>G (GCLC) | ||
| ENST00000510837.5:n.459+19A>G (GCLC) | ||
| ENST00000515580.1:n.1123A>G (GCLC) | ||
| ENST00000616923.4:c.1467+19A>G (GCLC) | ENSP00000482756.1:n.1467+19A>G | |
| NM_001197115.1:c.1467+19A>G (GCLC) | NP_001184044.1:n.1467+19A>G | |
| NM_001498.3:c.1581+19A>G (GCLC) | NP_001489.1:n.1581+19A>G | |
| XR_926888.1:n.87-5926T>C (GCLC-AS1) | ||
| XR_926889.1:n.56-5926T>C (GCLC-AS1) | ||
| NM_001498.4:c.1581+19A>G (GCLC) MANE Select | NP_001489.1:n.1581+19A>G | |
| XM_017010749.1:c.870+19A>G (GCLC) | XP_016866238.1:n.870+19A>G | |
| NM_001197115.2:c.1467+19A>G (GCLC) | NP_001184044.1:n.1467+19A>G |