Linked Data
ClinVar Variation Id:
2371440
ClinVar RCV Id:
RCV004212277
dbSNP Id:
rs1037619539
gnomAD v3:
3-39265531-A-T
gnomAD v4:
3-39265531-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265531A>T , CM000665.2:g.39265531A>T | GRCh38 |
| NC_000003.11:g.39307022A>T , CM000665.1:g.39307022A>T | GRCh37 |
| NC_000003.10:g.39282026A>T | NCBI36 |
| NG_016362.1:g.21205T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.979T>A MANE Select | ENSP00000382166.3:p.Ser327Thr | |
| ENST00000358309.3:c.1075T>A | ENSP00000351059.3:p.Ser359Thr | |
| ENST00000399220.2:c.979T>A | ENSP00000382166.2:p.Ser327Thr | |
| ENST00000541347.5:c.979T>A | ENSP00000439140.1:p.Ser327Thr | |
| ENST00000542107.5:c.979T>A | ENSP00000444928.1:p.Ser327Thr | |
| NM_001171171.1:c.979T>A | NP_001164642.1:p.Ser327Thr | |
| NM_001171172.1:c.979T>A | NP_001164643.1:p.Ser327Thr | |
| NM_001171174.1:c.1075T>A | NP_001164645.1:p.Ser359Thr | |
| NM_001337.3:c.979T>A | NP_001328.1:p.Ser327Thr | |
| NM_001337.4:c.979T>A MANE Select | NP_001328.1:p.Ser327Thr | |
| NM_001171171.2:c.979T>A | NP_001164642.1:p.Ser327Thr | |
| NM_001171172.2:c.979T>A | NP_001164643.1:p.Ser327Thr |