Linked Data
ClinVar Variation Id:
721250
ClinVar RCV Id:
RCV000894726
dbSNP Id:
rs17038679
ExAC:
3:39307545 G / A
gnomAD v2:
3-39307545-G-A
gnomAD v3:
3-39266054-G-A
gnomAD v4:
3-39266054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39266054G>A , CM000665.2:g.39266054G>A | GRCh38 |
| NC_000003.11:g.39307545G>A , CM000665.1:g.39307545G>A | GRCh37 |
| NC_000003.10:g.39282549G>A | NCBI36 |
| NG_016362.1:g.20682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.456C>T MANE Select | ENSP00000382166.3:p.Gly152= | |
| ENST00000358309.3:c.552C>T | ENSP00000351059.3:p.Gly184= | |
| ENST00000399220.2:c.456C>T | ENSP00000382166.2:p.Gly152= | |
| ENST00000435290.1:c.456C>T | ENSP00000394960.1:p.Gly152= | |
| ENST00000541347.5:c.456C>T | ENSP00000439140.1:p.Gly152= | |
| ENST00000542107.5:c.456C>T | ENSP00000444928.1:p.Gly152= | |
| NM_001171171.1:c.456C>T | NP_001164642.1:p.Gly152= | |
| NM_001171172.1:c.456C>T | NP_001164643.1:p.Gly152= | |
| NM_001171174.1:c.552C>T | NP_001164645.1:p.Gly184= | |
| NM_001337.3:c.456C>T | NP_001328.1:p.Gly152= | |
| NM_001337.4:c.456C>T MANE Select | NP_001328.1:p.Gly152= | |
| NM_001171171.2:c.456C>T | NP_001164642.1:p.Gly152= | |
| NM_001171172.2:c.456C>T | NP_001164643.1:p.Gly152= |