Linked Data
ClinVar Variation Id:
359827
ClinVar RCV Id:
RCV000402128
dbSNP Id:
rs538502935
gnomAD v2:
7-24738216-A-G
gnomAD v3:
7-24698597-A-G
gnomAD v4:
7-24698597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24698597A>G , CM000669.2:g.24698597A>G | GRCh38 |
| NC_000007.13:g.24738216A>G , CM000669.1:g.24738216A>G | GRCh37 |
| NC_000007.12:g.24704741A>G | NCBI36 |
| NG_011593.1:g.64424T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342947.9:c.*429T>C | ENSP00000339587.3:n.*429T>C | |
| ENST00000409970.6:c.*429T>C | ENSP00000387119.1:n.*429T>C | |
| ENST00000419307.6:c.*429T>C | ENSP00000401332.1:n.*429T>C | |
| ENST00000645220.1:c.*429T>C MANE Select | ENSP00000494186.1:n.*429T>C | |
| ENST00000342947.7:c.*429T>C | ENSP00000339587.3:n.*429T>C | |
| ENST00000409970.5:c.*429T>C | ENSP00000387119.1:n.*429T>C | |
| ENST00000419307.5:c.*429T>C | ENSP00000401332.1:n.*429T>C | |
| ENST00000479636.1:n.3941T>C | ||
| NM_001127453.1:c.*429T>C | NP_001120925.1:n.*429T>C | |
| NM_001127454.1:c.*429T>C | NP_001120926.1:n.*429T>C | |
| NM_004403.2:c.*429T>C | NP_004394.1:n.*429T>C | |
| XM_017011802.1:c.*429T>C | XP_016867291.1:n.*429T>C | |
| XM_024446670.1:c.*429T>C | XP_024302438.1:n.*429T>C | |
| NM_004403.3:c.*429T>C | NP_004394.1:n.*429T>C | |
| NM_001127453.2:c.*429T>C MANE Select | NP_001120925.1:n.*429T>C | |
| NM_001127454.2:c.*429T>C | NP_001120926.1:n.*429T>C |