Linked Data
ClinVar Variation Id:
2939252
ClinVar RCV Id:
RCV003791978
dbSNP Id:
rs1252544630
gnomAD v2:
7-128483346-G-T
gnomAD v3:
7-128843292-G-T
gnomAD v4:
7-128843292-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843292G>T , CM000669.2:g.128843292G>T | GRCh38 |
| NC_000007.13:g.128483346G>T , CM000669.1:g.128483346G>T | GRCh37 |
| NC_000007.12:g.128270582G>T | NCBI36 |
| NG_011807.1:g.17864G>T , LRG_870:g.17864G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2614G>T MANE Select | ENSP00000327145.8:p.Ala872Ser | |
| ENST00000325888.12:c.2614G>T | ENSP00000327145.8:p.Ala872Ser | |
| ENST00000346177.6:c.2614G>T | ENSP00000344002.6:p.Ala872Ser | |
| NM_001127487.1:c.2614G>T | NP_001120959.1:p.Ala872Ser | |
| NM_001458.4:c.2614G>T , LRG_870t1:c.2614G>T | NP_001449.3:p.Ala872Ser | |
| NM_001127487.2:c.2614G>T | NP_001120959.1:p.Ala872Ser | |
| NM_001458.5:c.2614G>T MANE Select | NP_001449.3:p.Ala872Ser |