Linked Data
ClinVar Variation Id:
388048
dbSNP Id:
rs574498998
ExAC:
4:77087448 C / T
gnomAD v2:
4-77087448-C-T
gnomAD v4:
4-76166295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76166295C>T , CM000666.2:g.76166295C>T | GRCh38 |
| NC_000004.11:g.77087448C>T , CM000666.1:g.77087448C>T | GRCh37 |
| NC_000004.10:g.77306472C>T | NCBI36 |
| NG_012054.1:g.52588G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.1170G>A | ||
| ENST00000264896.8:c.1194G>A MANE Select | ENSP00000264896.2:p.Thr398= | |
| ENST00000511129.2:n.570G>A | ||
| ENST00000638295.1:c.720G>A | ENSP00000492288.1:p.Thr240= | |
| ENST00000638372.1:n.1446G>A | ||
| ENST00000638603.1:c.1074G>A | ENSP00000491728.1:p.Thr358= | |
| ENST00000638663.1:c.1194G>A | ENSP00000491407.1:p.Thr398= | |
| ENST00000638680.1:n.2775G>A | ||
| ENST00000639145.1:c.1185G>A | ENSP00000492831.1:p.Thr395= | |
| ENST00000639300.1:c.*481G>A | ENSP00000492840.1:n.*481G>A | |
| ENST00000639715.1:c.1149G>A | ||
| ENST00000639738.1:c.282G>A | ENSP00000491792.1:p.Thr94= | |
| ENST00000640341.1:c.*834G>A | ENSP00000492714.1:n.*834G>A | |
| ENST00000640634.1:c.1315G>A | ||
| ENST00000640640.1:c.1194G>A | ENSP00000492246.1:p.Thr398= | |
| ENST00000640880.1:c.7G>A | ||
| ENST00000640957.1:c.1194G>A | ENSP00000492004.1:p.Thr398= | |
| ENST00000264896.6:c.1194G>A | ENSP00000264896.2:p.Thr398= | |
| ENST00000452464.6:c.765G>A | ENSP00000399154.2:p.Thr255= | |
| ENST00000511129.1:n.570G>A | ||
| NM_001204255.1:c.765G>A | NP_001191184.1:p.Thr255= | |
| NM_005506.3:c.1194G>A | NP_005497.1:p.Thr398= | |
| NM_005506.4:c.1194G>A MANE Select | NP_005497.1:p.Thr398= | |
| NM_001204255.2:c.765G>A | NP_001191184.1:p.Thr255= |