Linked Data
dbSNP Id:
rs17149923
gnomAD v2:
7-24745714-T-C
gnomAD v3:
7-24706095-T-C
gnomAD v4:
7-24706095-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24706095T>C , CM000669.2:g.24706095T>C | GRCh38 |
| NC_000007.13:g.24745714T>C , CM000669.1:g.24745714T>C | GRCh37 |
| NC_000007.12:g.24712239T>C | NCBI36 |
| NG_011593.1:g.56926A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1183+89A>G | ENSP00000339587.3:n.1183+89A>G | |
| ENST00000409970.6:c.691+89A>G | ENSP00000387119.1:n.691+89A>G | |
| ENST00000419307.6:c.691+89A>G | ENSP00000401332.1:n.691+89A>G | |
| ENST00000645220.1:c.1183+89A>G MANE Select | ENSP00000494186.1:n.1183+89A>G | |
| ENST00000342947.7:c.1183+89A>G | ENSP00000339587.3:n.1183+89A>G | |
| ENST00000409775.7:c.1183+89A>G | ENSP00000386670.3:n.1183+89A>G | |
| ENST00000409970.5:c.691+89A>G | ENSP00000387119.1:n.691+89A>G | |
| ENST00000419307.5:c.691+89A>G | ENSP00000401332.1:n.691+89A>G | |
| ENST00000430096.1:c.43+89A>G | ENSP00000395540.1:n.43+89A>G | |
| NM_001127453.1:c.1183+89A>G | NP_001120925.1:n.1183+89A>G | |
| NM_001127454.1:c.691+89A>G | NP_001120926.1:n.691+89A>G | |
| NM_004403.2:c.1183+89A>G | NP_004394.1:n.1183+89A>G | |
| XM_017011802.1:c.691+89A>G | XP_016867291.1:n.691+89A>G | |
| XM_024446670.1:c.1183+89A>G | XP_024302438.1:n.1183+89A>G | |
| NM_004403.3:c.1183+89A>G | NP_004394.1:n.1183+89A>G | |
| NM_001127453.2:c.1183+89A>G MANE Select | NP_001120925.1:n.1183+89A>G | |
| NM_001127454.2:c.691+89A>G | NP_001120926.1:n.691+89A>G |