Linked Data
dbSNP Id:
rs1420664074
gnomAD v2:
1-10438762-G-T
gnomAD v3:
1-10378704-G-T
gnomAD v4:
1-10378704-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378704G>T , CM000663.2:g.10378704G>T | GRCh38 |
| NC_000001.10:g.10438762G>T , CM000663.1:g.10438762G>T | GRCh37 |
| NC_000001.9:g.10361349G>T | NCBI36 |
| NG_008069.1:g.172999G>T , LRG_252:g.172999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*2117G>T MANE Select | ENSP00000502065.1:n.*2117G>T | |
| ENST00000377081.5:c.*302G>T | ENSP00000366284.1:n.*302G>T | |
| ENST00000377086.5:c.*2117G>T | ENSP00000366290.1:n.*2117G>T | |
| ENST00000620295.2:c.5732G>T | ENSP00000478500.1:n.5732G>T | |
| ENST00000622724.3:c.5696G>T | ENSP00000480063.1:n.5696G>T | |
| NM_015074.3:c.*2117G>T , LRG_252t1:c.*2117G>T | NP_055889.2:n.*2117G>T | |
| NM_001365951.1:c.*2117G>T | NP_001352880.1:n.*2117G>T | |
| NM_001365952.1:c.*2117G>T | NP_001352881.1:n.*2117G>T | |
| NM_001365951.3:c.*2117G>T MANE Select | NP_001352880.1:n.*2117G>T |