Linked Data
ClinVar Variation Id:
2105495
dbSNP Id:
rs200401315
gnomAD v2:
21-38437965-T-A
gnomAD v3:
21-37065665-T-A
gnomAD v4:
21-37065665-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37065665T>A , CM000683.2:g.37065665T>A | GRCh38 |
| NC_000021.8:g.38437965T>A , CM000683.1:g.38437965T>A | GRCh37 |
| NC_000021.7:g.37359835T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360525.9:c.322A>T MANE Select | ENSP00000353719.3:p.Ile108Phe | |
| ENST00000329667.7:n.271A>T | ||
| ENST00000360525.8:c.322A>T | ENSP00000353719.3:p.Ile108Phe | |
| ENST00000399098.5:c.244A>T | ENSP00000382049.1:p.Ile82Phe | |
| ENST00000399102.5:c.322A>T | ENSP00000382053.1:p.Ile108Phe | |
| ENST00000399103.5:c.322A>T | ENSP00000382054.1:p.Ile108Phe | |
| ENST00000464265.5:c.394A>T | ENSP00000420037.1:p.Ile132Phe | |
| NM_153681.2:c.394A>T | NP_710148.1:p.Ile132Phe | |
| NM_153682.2:c.322A>T | NP_710149.1:p.Ile108Phe | |
| NR_028352.1:n.669A>T | ||
| XM_005260990.3:c.322A>T | XP_005261047.1:p.Ile108Phe | |
| XM_011529595.1:c.322A>T | XP_011527897.1:p.Ile108Phe | |
| XM_011529596.1:c.322A>T | XP_011527898.1:p.Ile108Phe | |
| NM_001320480.1:c.322A>T | NP_001307409.1:p.Ile108Phe | |
| NM_016430.3:c.244A>T | NP_057514.2:p.Ile82Phe | |
| XM_017028365.1:c.244A>T | XP_016883854.1:p.Ile82Phe | |
| NM_001320480.2:c.322A>T | NP_001307409.1:p.Ile108Phe | |
| NM_016430.4:c.244A>T | NP_057514.2:p.Ile82Phe | |
| NM_153682.3:c.322A>T MANE Select | NP_710149.1:p.Ile108Phe |