Linked Data
ClinVar Variation Id:
2603
ClinVar RCV Id:
RCV000002721
dbSNP Id:
rs137852905
gnomAD v4:
4-80054342-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80054342A>G , CM000666.2:g.80054342A>G | GRCh38 |
| NC_000004.11:g.80975496A>G , CM000666.1:g.80975496A>G | GRCh37 |
| NC_000004.10:g.81194520A>G | NCBI36 |
| NG_015987.1:g.23982T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403729.7:c.566T>C MANE Select | ENSP00000385575.2:p.Ile189Thr | |
| ENST00000679571.1:c.335T>C | ENSP00000506307.1:p.Ile112Thr | |
| ENST00000680913.1:c.566T>C | ENSP00000505640.1:p.Ile189Thr | |
| ENST00000681115.1:c.566T>C | ENSP00000505618.1:p.Ile189Thr | |
| ENST00000681710.1:c.335T>C | ENSP00000505865.1:p.Ile112Thr | |
| ENST00000307333.7:c.566T>C | ENSP00000306185.6:p.Ile189Thr | |
| ENST00000346652.10:c.566T>C | ENSP00000314883.6:p.Ile189Thr | |
| ENST00000403729.6:c.566T>C | ENSP00000385575.2:p.Ile189Thr | |
| ENST00000404191.5:c.335T>C | ENSP00000384028.1:p.Ile112Thr | |
| ENST00000449651.5:c.335T>C | ENSP00000413700.1:p.Ile112Thr | |
| ENST00000514959.1:n.518T>C | ||
| NM_001145794.1:c.566T>C | NP_001139266.1:p.Ile189Thr | |
| NM_001286780.1:c.335T>C | NP_001273709.1:p.Ile112Thr | |
| NM_001286781.1:c.335T>C | NP_001273710.1:p.Ile112Thr | |
| NM_058172.5:c.566T>C | NP_477520.2:p.Ile189Thr | |
| XM_011531587.1:c.335T>C | XP_011529889.1:p.Ile112Thr | |
| XM_011531587.3:c.335T>C | XP_011529889.1:p.Ile112Thr | |
| NM_058172.6:c.566T>C MANE Select | NP_477520.2:p.Ile189Thr | |
| NM_001286780.2:c.335T>C | NP_001273709.1:p.Ile112Thr | |
| NM_001286781.2:c.335T>C | NP_001273710.1:p.Ile112Thr | |
| NM_001145794.2:c.566T>C | NP_001139266.1:p.Ile189Thr |