Linked Data
ClinVar Variation Id:
2877195
ClinVar RCV Id:
RCV003712763
dbSNP Id:
rs1728337255
gnomAD v3:
4-25125768-T-A
gnomAD v4:
4-25125768-T-A
MyVariant Identifiers:
chr4:g.25127390T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25125768T>A , CM000666.2:g.25125768T>A | GRCh38 |
| NC_000004.11:g.25127390T>A , CM000666.1:g.25127390T>A | GRCh37 |
| NC_000004.10:g.24736488T>A | NCBI36 |
| NG_028222.1:g.39815A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1137A>T MANE Select | ENSP00000371535.2:p.Thr379= | |
| ENST00000680581.1:c.*11A>T | ENSP00000506483.1:n.*11A>T | |
| ENST00000680824.1:n.2353A>T | ||
| ENST00000681071.1:n.1429A>T | ||
| ENST00000681341.1:n.2184A>T | ||
| ENST00000681374.1:n.493A>T | ||
| ENST00000681948.1:c.1392A>T | ENSP00000505991.1:p.Thr464= | |
| ENST00000358971.7:c.*935A>T | ENSP00000351857.3:n.*935A>T | |
| ENST00000382103.6:c.1137A>T | ENSP00000371535.2:p.Thr379= | |
| ENST00000503150.1:c.325A>T | ||
| ENST00000514585.5:c.*838A>T | ENSP00000421880.1:n.*838A>T | |
| ENST00000515272.1:n.62A>T | ||
| NM_016955.3:c.1137A>T | NP_058651.3:p.Thr379= | |
| XM_005248168.2:c.900A>T | XP_005248225.1:p.Thr300= | |
| XM_006713965.2:c.957A>T | XP_006714028.1:p.Thr319= | |
| XM_011513846.1:c.1134A>T | XP_011512148.1:p.Thr378= | |
| XM_011513847.1:c.1104A>T | XP_011512149.1:p.Thr368= | |
| XM_011513848.1:c.957A>T | XP_011512150.1:p.Thr319= | |
| XM_011513846.2:c.1134A>T | XP_011512148.1:p.Thr378= | |
| XM_011513847.2:c.1104A>T | XP_011512149.1:p.Thr368= | |
| XM_017008277.1:c.1392A>T | XP_016863766.1:p.Thr464= | |
| XM_017008278.1:c.714A>T | XP_016863767.1:p.Thr238= | |
| NM_016955.4:c.1137A>T MANE Select | NP_058651.3:p.Thr379= |