Linked Data
dbSNP Id:
rs929888648
gnomAD v4:
4-121696950-C-T
MyVariant Identifiers:
chr4:g.121696950C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696950C>T , CM000666.2:g.121696950C>T | GRCh38 |
| NC_000004.11:g.122618105C>T , CM000666.1:g.122618105C>T | GRCh37 |
| NC_000004.10:g.122837555C>T | NCBI36 |
| NG_032042.1:g.5043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296511.10:c.-123G>A MANE Select | ENSP00000296511.5:n.-123G>A | |
| ENST00000296511.9:c.-123G>A | ENSP00000296511.5:n.-123G>A | |
| ENST00000501272.6:c.-123G>A | ENSP00000424106.1:n.-123G>A | |
| ENST00000506395.5:c.-123G>A | ENSP00000421421.1:n.-123G>A | |
| ENST00000509016.5:n.43G>A | ||
| ENST00000511552.5:n.26G>A | ||
| ENST00000513428.5:n.43G>A | ||
| ENST00000513523.1:n.46G>A | ||
| ENST00000513728.1:c.-123G>A | ENSP00000427135.1:n.-123G>A | |
| ENST00000515017.5:c.-123G>A | ENSP00000424199.1:n.-123G>A | |
| NM_001154.3:c.-123G>A | NP_001145.1:n.-123G>A | |
| XM_017008141.2:c.-123G>A | XP_016863630.1:n.-123G>A | |
| NM_001154.4:c.-123G>A MANE Select | NP_001145.1:n.-123G>A |