Linked Data
dbSNP Id:
rs1974201
gnomAD v2:
6-132211121-G-C
gnomAD v3:
6-131889981-G-C
gnomAD v4:
6-131889981-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131889981G>C , CM000668.2:g.131889981G>C | GRCh38 |
| NC_000006.11:g.132211121G>C , CM000668.1:g.132211121G>C | GRCh37 |
| NC_000006.10:g.132252814G>C | NCBI36 |
| NG_008206.1:g.86966G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1039-360G>C | ||
| ENST00000647893.1:c.2608-360G>C MANE Select | ENSP00000498074.1:n.2608-360G>C | |
| ENST00000360971.6:c.2608-360G>C | ENSP00000354238.2:n.2608-360G>C | |
| ENST00000513998.5:c.*1445-360G>C | ENSP00000422424.1:n.*1445-360G>C | |
| NM_006208.2:c.2608-360G>C | NP_006199.2:n.2608-360G>C | |
| XM_011535896.1:c.1498-360G>C | XP_011534198.1:n.1498-360G>C | |
| NM_006208.3:c.2608-360G>C MANE Select | NP_006199.2:n.2608-360G>C |