Linked Data
dbSNP Id:
rs1692860238
gnomAD v3:
2-61378410-G-A
gnomAD v4:
2-61378410-G-A
MyVariant Identifiers:
chr2:g.61605545G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378410G>A , CM000664.2:g.61378410G>A | GRCh38 |
| NC_000002.11:g.61605545G>A , CM000664.1:g.61605545G>A | GRCh37 |
| NC_000002.10:g.61459049G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1029C>T MANE Select | ENSP00000381577.2:p.Thr343= | |
| ENST00000398571.6:c.1029C>T | ENSP00000381577.2:p.Thr343= | |
| ENST00000453133.1:c.555C>T | ||
| NM_014709.3:c.1029C>T | NP_055524.3:p.Thr343= | |
| NM_014709.4:c.1029C>T MANE Select | NP_055524.3:p.Thr343= |