Linked Data
ClinVar Variation Id:
3102824
ClinVar RCV Id:
RCV004396214
dbSNP Id:
rs775797918
ExAC:
7:24742392 G / A
gnomAD v2:
7-24742392-G-A
gnomAD v3:
7-24702773-G-A
gnomAD v4:
7-24702773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24702773G>A , CM000669.2:g.24702773G>A | GRCh38 |
| NC_000007.13:g.24742392G>A , CM000669.1:g.24742392G>A | GRCh37 |
| NC_000007.12:g.24708917G>A | NCBI36 |
| NG_011593.1:g.60248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1244C>T | ENSP00000339587.3:p.Thr415Ile | |
| ENST00000409970.6:c.752C>T | ENSP00000387119.1:p.Thr251Ile | |
| ENST00000419307.6:c.752C>T | ENSP00000401332.1:p.Thr251Ile | |
| ENST00000645220.1:c.1244C>T MANE Select | ENSP00000494186.1:p.Thr415Ile | |
| ENST00000342947.7:c.1244C>T | ENSP00000339587.3:p.Thr415Ile | |
| ENST00000409775.7:c.1244C>T | ENSP00000386670.3:p.Thr415Ile | |
| ENST00000409970.5:c.752C>T | ENSP00000387119.1:p.Thr251Ile | |
| ENST00000419307.5:c.752C>T | ENSP00000401332.1:p.Thr251Ile | |
| ENST00000430096.1:c.104C>T | ENSP00000395540.1:p.Thr35Ile | |
| ENST00000479636.1:n.3265C>T | ||
| NM_001127453.1:c.1244C>T | NP_001120925.1:p.Thr415Ile | |
| NM_001127454.1:c.752C>T | NP_001120926.1:p.Thr251Ile | |
| NM_004403.2:c.1244C>T | NP_004394.1:p.Thr415Ile | |
| XM_017011802.1:c.752C>T | XP_016867291.1:p.Thr251Ile | |
| XM_024446670.1:c.1244C>T | XP_024302438.1:p.Thr415Ile | |
| NM_004403.3:c.1244C>T | NP_004394.1:p.Thr415Ile | |
| NM_001127453.2:c.1244C>T MANE Select | NP_001120925.1:p.Thr415Ile | |
| NM_001127454.2:c.752C>T | NP_001120926.1:p.Thr251Ile |