Linked Data
ClinVar Variation Id:
359841
ClinVar RCV Id:
RCV002229907
dbSNP Id:
rs368035633
ExAC:
7:24745807 G / A
gnomAD v2:
7-24745807-G-A
gnomAD v3:
7-24706188-G-A
gnomAD v4:
7-24706188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24706188G>A , CM000669.2:g.24706188G>A | GRCh38 |
| NC_000007.13:g.24745807G>A , CM000669.1:g.24745807G>A | GRCh37 |
| NC_000007.12:g.24712332G>A | NCBI36 |
| NG_011593.1:g.56833C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342947.9:c.1179C>T | ENSP00000339587.3:p.Leu393= | |
| ENST00000409970.6:c.687C>T | ENSP00000387119.1:p.Leu229= | |
| ENST00000419307.6:c.687C>T | ENSP00000401332.1:p.Leu229= | |
| ENST00000645220.1:c.1179C>T MANE Select | ENSP00000494186.1:p.Leu393= | |
| ENST00000342947.7:c.1179C>T | ENSP00000339587.3:p.Leu393= | |
| ENST00000409775.7:c.1179C>T | ENSP00000386670.3:p.Leu393= | |
| ENST00000409970.5:c.687C>T | ENSP00000387119.1:p.Leu229= | |
| ENST00000419307.5:c.687C>T | ENSP00000401332.1:p.Leu229= | |
| ENST00000430096.1:c.39C>T | ENSP00000395540.1:p.Leu13= | |
| NM_001127453.1:c.1179C>T | NP_001120925.1:p.Leu393= | |
| NM_001127454.1:c.687C>T | NP_001120926.1:p.Leu229= | |
| NM_004403.2:c.1179C>T | NP_004394.1:p.Leu393= | |
| XM_017011802.1:c.687C>T | XP_016867291.1:p.Leu229= | |
| XM_024446670.1:c.1179C>T | XP_024302438.1:p.Leu393= | |
| NM_004403.3:c.1179C>T | NP_004394.1:p.Leu393= | |
| NM_001127453.2:c.1179C>T MANE Select | NP_001120925.1:p.Leu393= | |
| NM_001127454.2:c.687C>T | NP_001120926.1:p.Leu229= |