Linked Data
ClinVar Variation Id:
748
dbSNP Id:
rs267606709
ExAC:
4:15569358 C / T
gnomAD v2:
4-15569358-C-T
gnomAD v3:
4-15567735-C-T
gnomAD v4:
4-15567735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15567735C>T , CM000666.2:g.15567735C>T | GRCh38 |
| NC_000004.11:g.15569358C>T , CM000666.1:g.15569358C>T | GRCh37 |
| NC_000004.10:g.15178456C>T | NCBI36 |
| NG_013035.1:g.102870C>T , LRG_697:g.102870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3362C>T | ENSP00000374303.8:p.Thr1121Met | |
| ENST00000424120.6:c.3347C>T MANE Select | ENSP00000403465.1:p.Thr1116Met | |
| ENST00000503292.6:c.3347C>T | ENSP00000421809.1:p.Thr1116Met | |
| ENST00000506643.5:c.3200C>T | ENSP00000422931.2:p.Thr1067Met | |
| ENST00000634028.2:c.3200C>T | ENSP00000488669.2:p.Thr1067Met | |
| ENST00000650860.2:c.*353C>T | ENSP00000498775.1:n.*353C>T | |
| ENST00000674945.1:c.3200C>T | ENSP00000502333.1:p.Thr1067Met | |
| ENST00000675619.1:n.4158C>T | ||
| ENST00000675768.1:n.567C>T | ||
| ENST00000676337.1:c.*353C>T | ENSP00000501728.1:n.*353C>T | |
| ENST00000680586.1:n.4006C>T | ||
| ENST00000389652.9:c.2824C>T | ||
| ENST00000424120.5:c.3347C>T | ENSP00000403465.1:p.Thr1116Met | |
| ENST00000503292.5:c.3347C>T | ENSP00000421809.1:p.Thr1116Met | |
| ENST00000506643.4:c.1675C>T | ||
| ENST00000634028.1:c.3330C>T | ENSP00000488669.1:n.3330C>T | |
| NM_001080522.2:c.3347C>T , LRG_697t1:c.3347C>T | NP_001073991.2:p.Thr1116Met | |
| XM_005248177.1:c.3347C>T | XP_005248234.1:p.Thr1116Met | |
| XM_011513869.1:c.3347C>T | XP_011512171.1:p.Thr1116Met | |
| XM_011513870.1:c.3347C>T | XP_011512172.1:p.Thr1116Met | |
| XM_011513871.1:c.3200C>T | XP_011512173.1:p.Thr1067Met | |
| XM_017008482.1:c.3200C>T | XP_016863971.1:p.Thr1067Met | |
| XR_001741296.1:n.3592C>T | ||
| NM_001378615.1:c.3347C>T MANE Select | NP_001365544.1:p.Thr1116Met | |
| NM_001378617.1:c.3200C>T | NP_001365546.1:p.Thr1067Met |