Linked Data
dbSNP Id:
rs770602152
ExAC:
6:53371705 A / G
gnomAD v2:
6-53371705-A-G
gnomAD v4:
6-53506907-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53506907A>G , CM000668.2:g.53506907A>G | GRCh38 |
| NC_000006.11:g.53371705A>G , CM000668.1:g.53371705A>G | GRCh37 |
| NC_000006.10:g.53479664A>G | NCBI36 |
| NG_012071.1:g.43127T>C | |
| NG_012071.2:g.43223T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1083+6T>C (GCLC) | ENSP00000424211.2:n.1083+6T>C | |
| ENST00000616923.5:c.1038+6T>C (GCLC) | ENSP00000482756.2:n.1038+6T>C | |
| ENST00000643939.1:c.1203+6T>C (GCLC) | ENSP00000495686.1:n.1203+6T>C | |
| ENST00000650454.1:c.1197+6T>C (GCLC) MANE Select | ENSP00000497574.1:n.1197+6T>C | |
| ENST00000229416.10:c.1197+6T>C (GCLC) | ENSP00000229416.6:n.1197+6T>C | |
| ENST00000504353.1:n.166+6T>C (GCLC) | ||
| ENST00000509541.5:n.1642+6T>C (GCLC) | ||
| ENST00000616923.4:c.1083+6T>C (GCLC) | ENSP00000482756.1:n.1083+6T>C | |
| NM_001197115.1:c.1083+6T>C (GCLC) | NP_001184044.1:n.1083+6T>C | |
| NM_001498.3:c.1197+6T>C (GCLC) | NP_001489.1:n.1197+6T>C | |
| XR_926886.1:n.2255A>G (GCLC-AS1) | ||
| XR_926887.1:n.2249A>G (GCLC-AS1) | ||
| XR_926888.1:n.477A>G (GCLC-AS1) | ||
| XR_926889.1:n.446A>G (GCLC-AS1) | ||
| NM_001498.4:c.1197+6T>C (GCLC) MANE Select | NP_001489.1:n.1197+6T>C | |
| XM_017010749.1:c.486+6T>C (GCLC) | XP_016866238.1:n.486+6T>C | |
| XR_926886.2:n.581A>G (GCLC-AS1) | ||
| NM_001197115.2:c.1083+6T>C (GCLC) | NP_001184044.1:n.1083+6T>C |