Linked Data
dbSNP Id:
rs762219620
ExAC:
20:2398111 G / A
gnomAD v2:
20-2398111-G-A
gnomAD v4:
20-2417465-G-A
MyVariant Identifiers:
chr20:g.2398111G>A (hg19)
chr20:g.2398111_2398112delinsAC (hg19)
chr20:g.2417465G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2417465G>A , CM000682.2:g.2417465G>A | GRCh38 |
| NC_000020.10:g.2398111G>A , CM000682.1:g.2398111G>A | GRCh37 |
| NC_000020.9:g.2346111G>A | NCBI36 |
| NG_031917.1:g.41558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.1570G>A MANE Select | ENSP00000202625.2:p.Ala524Thr | |
| ENST00000202625.6:c.1570G>A | ENSP00000202625.2:p.Ala524Thr | |
| ENST00000381423.1:c.1570G>A | ENSP00000370831.1:p.Ala524Thr | |
| NM_001254734.1:c.1570G>A | NP_001241663.1:p.Ala524Thr | |
| NM_198994.2:c.1570G>A | NP_945345.2:p.Ala524Thr | |
| NM_001254734.2:c.1570G>A | NP_001241663.1:p.Ala524Thr | |
| NM_198994.3:c.1570G>A MANE Select | NP_945345.2:p.Ala524Thr |