Linked Data
dbSNP Id:
rs1332818449
gnomAD v2:
7-24745724-G-A
gnomAD v3:
7-24706105-G-A
gnomAD v4:
7-24706105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24706105G>A , CM000669.2:g.24706105G>A | GRCh38 |
| NC_000007.13:g.24745724G>A , CM000669.1:g.24745724G>A | GRCh37 |
| NC_000007.12:g.24712249G>A | NCBI36 |
| NG_011593.1:g.56916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1183+79C>T | ENSP00000339587.3:n.1183+79C>T | |
| ENST00000409970.6:c.691+79C>T | ENSP00000387119.1:n.691+79C>T | |
| ENST00000419307.6:c.691+79C>T | ENSP00000401332.1:n.691+79C>T | |
| ENST00000645220.1:c.1183+79C>T MANE Select | ENSP00000494186.1:n.1183+79C>T | |
| ENST00000342947.7:c.1183+79C>T | ENSP00000339587.3:n.1183+79C>T | |
| ENST00000409775.7:c.1183+79C>T | ENSP00000386670.3:n.1183+79C>T | |
| ENST00000409970.5:c.691+79C>T | ENSP00000387119.1:n.691+79C>T | |
| ENST00000419307.5:c.691+79C>T | ENSP00000401332.1:n.691+79C>T | |
| ENST00000430096.1:c.43+79C>T | ENSP00000395540.1:n.43+79C>T | |
| NM_001127453.1:c.1183+79C>T | NP_001120925.1:n.1183+79C>T | |
| NM_001127454.1:c.691+79C>T | NP_001120926.1:n.691+79C>T | |
| NM_004403.2:c.1183+79C>T | NP_004394.1:n.1183+79C>T | |
| XM_017011802.1:c.691+79C>T | XP_016867291.1:n.691+79C>T | |
| XM_024446670.1:c.1183+79C>T | XP_024302438.1:n.1183+79C>T | |
| NM_004403.3:c.1183+79C>T | NP_004394.1:n.1183+79C>T | |
| NM_001127453.2:c.1183+79C>T MANE Select | NP_001120925.1:n.1183+79C>T | |
| NM_001127454.2:c.691+79C>T | NP_001120926.1:n.691+79C>T |