Linked Data
dbSNP Id:
rs1288592840
gnomAD v2:
4-122618125-G-T
gnomAD v3:
4-121696970-G-T
gnomAD v4:
4-121696970-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696970G>T , CM000666.2:g.121696970G>T | GRCh38 |
| NC_000004.11:g.122618125G>T , CM000666.1:g.122618125G>T | GRCh37 |
| NC_000004.10:g.122837575G>T | NCBI36 |
| NG_032042.1:g.5023C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-143C>A MANE Select | ENSP00000296511.5:n.-143C>A | |
| ENST00000296511.9:c.-143C>A | ENSP00000296511.5:n.-143C>A | |
| ENST00000509016.5:n.23C>A | ||
| ENST00000511552.5:n.6C>A | ||
| ENST00000513428.5:n.23C>A | ||
| ENST00000513523.1:n.26C>A | ||
| ENST00000513728.1:c.-143C>A | ENSP00000427135.1:n.-143C>A | |
| NM_001154.3:c.-143C>A | NP_001145.1:n.-143C>A | |
| XM_017008141.2:c.-143C>A | XP_016863630.1:n.-143C>A | |
| NM_001154.4:c.-143C>A MANE Select | NP_001145.1:n.-143C>A |