Linked Data
ClinVar Variation Id:
585914
dbSNP Id:
rs1185622190
gnomAD v2:
7-44184823-G-A
gnomAD v4:
7-44145224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145224G>A , CM000669.2:g.44145224G>A | GRCh38 |
| NC_000007.13:g.44184823G>A , CM000669.1:g.44184823G>A | GRCh37 |
| NC_000007.12:g.44151348G>A | NCBI36 |
| NG_008847.1:g.49200C>T | |
| NG_008847.2:g.57947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1308C>T | ENSP00000379142.4:n.*1308C>T | |
| ENST00000616242.5:c.*430C>T | ENSP00000482149.2:n.*430C>T | |
| ENST00000683378.1:n.536C>T | ||
| ENST00000336642.9:c.344C>T | ENSP00000338009.5:p.Thr115Ile | |
| ENST00000345378.7:c.1313C>T | ENSP00000223366.2:p.Thr438Ile | |
| ENST00000403799.8:c.1310C>T MANE Select | ENSP00000384247.3:p.Thr437Ile | |
| ENST00000671824.1:c.1373C>T | ENSP00000500264.1:p.Thr458Ile | |
| ENST00000672743.1:n.322C>T | ||
| ENST00000673284.1:c.1310C>T | ENSP00000499852.1:p.Thr437Ile | |
| ENST00000336642.8:c.362C>T | ENSP00000338009.4:p.Thr121Ile | |
| ENST00000345378.6:c.1313C>T | ENSP00000223366.2:p.Thr438Ile | |
| ENST00000395796.7:c.1307C>T | ENSP00000379142.3:p.Thr436Ile | |
| ENST00000403799.7:c.1310C>T | ENSP00000384247.3:p.Thr437Ile | |
| ENST00000437084.1:c.1259C>T | ENSP00000402840.1:p.Thr420Ile | |
| ENST00000459642.1:n.690C>T | ||
| ENST00000616242.4:c.1307C>T | ENSP00000482149.1:p.Thr436Ile | |
| NM_000162.3:c.1310C>T | NP_000153.1:p.Thr437Ile | |
| NM_033507.1:c.1313C>T | NP_277042.1:p.Thr438Ile | |
| NM_033508.1:c.1307C>T | NP_277043.1:p.Thr436Ile | |
| NM_000162.4:c.1310C>T | NP_000153.1:p.Thr437Ile | |
| NM_001354800.1:c.1310C>T | NP_001341729.1:p.Thr437Ile | |
| NM_001354801.1:c.299C>T | NP_001341730.1:p.Thr100Ile | |
| NM_001354802.1:c.170C>T | NP_001341731.1:p.Thr57Ile | |
| NM_001354803.1:c.344C>T | NP_001341732.1:p.Thr115Ile | |
| NM_033507.2:c.1313C>T | NP_277042.1:p.Thr438Ile | |
| NM_033508.2:c.1307C>T | NP_277043.1:p.Thr436Ile | |
| XM_024446707.1:c.170C>T | XP_024302475.1:p.Thr57Ile | |
| NM_000162.5:c.1310C>T MANE Select | NP_000153.1:p.Thr437Ile | |
| NM_033507.3:c.1313C>T | NP_277042.1:p.Thr438Ile | |
| NM_033508.3:c.1307C>T | NP_277043.1:p.Thr436Ile | |
| NM_001354803.2:c.344C>T | NP_001341732.1:p.Thr115Ile |