Linked Data
ClinVar Variation Id:
44839
dbSNP Id:
rs71535705
ExAC:
7:24742437 G / A
gnomAD v2:
7-24742437-G-A
gnomAD v3:
7-24702818-G-A
gnomAD v4:
7-24702818-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24702818G>A , CM000669.2:g.24702818G>A | GRCh38 |
| NC_000007.13:g.24742437G>A , CM000669.1:g.24742437G>A | GRCh37 |
| NC_000007.12:g.24708962G>A | NCBI36 |
| NG_011593.1:g.60203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1199C>T | ENSP00000339587.3:p.Ala400Val | |
| ENST00000409970.6:c.707C>T | ENSP00000387119.1:p.Ala236Val | |
| ENST00000419307.6:c.707C>T | ENSP00000401332.1:p.Ala236Val | |
| ENST00000645220.1:c.1199C>T MANE Select | ENSP00000494186.1:p.Ala400Val | |
| ENST00000342947.7:c.1199C>T | ENSP00000339587.3:p.Ala400Val | |
| ENST00000409775.7:c.1199C>T | ENSP00000386670.3:p.Ala400Val | |
| ENST00000409970.5:c.707C>T | ENSP00000387119.1:p.Ala236Val | |
| ENST00000419307.5:c.707C>T | ENSP00000401332.1:p.Ala236Val | |
| ENST00000430096.1:c.59C>T | ENSP00000395540.1:p.Ala20Val | |
| ENST00000479636.1:n.3220C>T | ||
| NM_001127453.1:c.1199C>T | NP_001120925.1:p.Ala400Val | |
| NM_001127454.1:c.707C>T | NP_001120926.1:p.Ala236Val | |
| NM_004403.2:c.1199C>T | NP_004394.1:p.Ala400Val | |
| XM_017011802.1:c.707C>T | XP_016867291.1:p.Ala236Val | |
| XM_024446670.1:c.1199C>T | XP_024302438.1:p.Ala400Val | |
| NM_004403.3:c.1199C>T | NP_004394.1:p.Ala400Val | |
| NM_001127453.2:c.1199C>T MANE Select | NP_001120925.1:p.Ala400Val | |
| NM_001127454.2:c.707C>T | NP_001120926.1:p.Ala236Val |