Linked Data
ClinVar Variation Id:
1978414
ClinVar RCV Id:
RCV002775050
MyVariant Identifiers:
chr6:g.53371706G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53506908G>C , CM000668.2:g.53506908G>C | GRCh38 |
| NC_000006.11:g.53371706G>C , CM000668.1:g.53371706G>C | GRCh37 |
| NC_000006.10:g.53479665G>C | NCBI36 |
| NG_012071.1:g.43126C>G | |
| NG_012071.2:g.43222C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1083+5C>G (GCLC) | ENSP00000424211.2:n.1083+5C>G | |
| ENST00000616923.5:c.1038+5C>G (GCLC) | ENSP00000482756.2:n.1038+5C>G | |
| ENST00000643939.1:c.1203+5C>G (GCLC) | ENSP00000495686.1:n.1203+5C>G | |
| ENST00000650454.1:c.1197+5C>G (GCLC) MANE Select | ENSP00000497574.1:n.1197+5C>G | |
| ENST00000229416.10:c.1197+5C>G (GCLC) | ENSP00000229416.6:n.1197+5C>G | |
| ENST00000504353.1:n.166+5C>G (GCLC) | ||
| ENST00000509541.5:n.1642+5C>G (GCLC) | ||
| ENST00000616923.4:c.1083+5C>G (GCLC) | ENSP00000482756.1:n.1083+5C>G | |
| NM_001197115.1:c.1083+5C>G (GCLC) | NP_001184044.1:n.1083+5C>G | |
| NM_001498.3:c.1197+5C>G (GCLC) | NP_001489.1:n.1197+5C>G | |
| XR_926886.1:n.2256G>C (GCLC-AS1) | ||
| XR_926887.1:n.2250G>C (GCLC-AS1) | ||
| XR_926888.1:n.478G>C (GCLC-AS1) | ||
| XR_926889.1:n.447G>C (GCLC-AS1) | ||
| NM_001498.4:c.1197+5C>G (GCLC) MANE Select | NP_001489.1:n.1197+5C>G | |
| XM_017010749.1:c.486+5C>G (GCLC) | XP_016866238.1:n.486+5C>G | |
| XR_926886.2:n.582G>C (GCLC-AS1) | ||
| NM_001197115.2:c.1083+5C>G (GCLC) | NP_001184044.1:n.1083+5C>G |