Linked Data
ClinVar Variation Id:
359833
ClinVar RCV Id:
RCV000264225
dbSNP Id:
rs886062223
gnomAD v2:
7-24738385-T-C
gnomAD v3:
7-24698766-T-C
gnomAD v4:
7-24698766-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24698766T>C , CM000669.2:g.24698766T>C | GRCh38 |
| NC_000007.13:g.24738385T>C , CM000669.1:g.24738385T>C | GRCh37 |
| NC_000007.12:g.24704910T>C | NCBI36 |
| NG_011593.1:g.64255A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342947.9:c.*260A>G | ENSP00000339587.3:n.*260A>G | |
| ENST00000409970.6:c.*260A>G | ENSP00000387119.1:n.*260A>G | |
| ENST00000419307.6:c.*260A>G | ENSP00000401332.1:n.*260A>G | |
| ENST00000645220.1:c.*260A>G MANE Select | ENSP00000494186.1:n.*260A>G | |
| ENST00000342947.7:c.*260A>G | ENSP00000339587.3:n.*260A>G | |
| ENST00000409970.5:c.*260A>G | ENSP00000387119.1:n.*260A>G | |
| ENST00000419307.5:c.*260A>G | ENSP00000401332.1:n.*260A>G | |
| ENST00000479636.1:n.3772A>G | ||
| NM_001127453.1:c.*260A>G | NP_001120925.1:n.*260A>G | |
| NM_001127454.1:c.*260A>G | NP_001120926.1:n.*260A>G | |
| NM_004403.2:c.*260A>G | NP_004394.1:n.*260A>G | |
| XM_017011802.1:c.*260A>G | XP_016867291.1:n.*260A>G | |
| XM_024446670.1:c.*260A>G | XP_024302438.1:n.*260A>G | |
| NM_004403.3:c.*260A>G | NP_004394.1:n.*260A>G | |
| NM_001127453.2:c.*260A>G MANE Select | NP_001120925.1:n.*260A>G | |
| NM_001127454.2:c.*260A>G | NP_001120926.1:n.*260A>G |