Linked Data
ClinVar Variation Id:
215377
dbSNP Id:
rs766169444
ExAC:
4:6302628 A / C
gnomAD v2:
4-6302628-A-C
gnomAD v4:
4-6300901-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300901A>C , CM000666.2:g.6300901A>C | GRCh38 |
| NC_000004.11:g.6302628A>C , CM000666.1:g.6302628A>C | GRCh37 |
| NC_000004.10:g.6353529A>C | NCBI36 |
| NG_011700.1:g.36052A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1142A>C | ENSP00000507852.1:p.Lys381Thr | |
| ENST00000683395.1:c.1083A>C | ||
| ENST00000684087.1:c.1106A>C | ENSP00000506978.1:p.Lys369Thr | |
| ENST00000506362.2:c.857A>C | ENSP00000424103.2:p.Lys286Thr | |
| ENST00000673642.1:c.765A>C | ENSP00000501242.1:p.Gln255His | |
| ENST00000673991.1:c.1142A>C | ENSP00000501033.1:p.Lys381Thr | |
| ENST00000226760.5:c.1106A>C MANE Select | ENSP00000226760.1:p.Lys369Thr | |
| ENST00000503569.5:c.1106A>C | ENSP00000423337.1:p.Lys369Thr | |
| ENST00000506362.1:c.739A>C | ||
| ENST00000507765.1:n.1291A>C | ||
| NM_001145853.1:c.1106A>C | NP_001139325.1:p.Lys369Thr | |
| NM_006005.3:c.1106A>C MANE Select | NP_005996.2:p.Lys369Thr | |
| XM_017008586.1:c.1115A>C | XP_016864075.1:p.Lys372Thr |