Linked Data
dbSNP Id:
rs1131239
ExAC:
4:122617745 G / A
gnomAD v2:
4-122617745-G-A
gnomAD v3:
4-121696590-G-A
gnomAD v4:
4-121696590-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696590G>A , CM000666.2:g.121696590G>A | GRCh38 |
| NC_000004.11:g.122617745G>A , CM000666.1:g.122617745G>A | GRCh37 |
| NC_000004.10:g.122837195G>A | NCBI36 |
| NG_032042.1:g.5403C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-1C>T MANE Select | ENSP00000296511.5:n.-1C>T | |
| ENST00000296511.9:c.-1C>T | ENSP00000296511.5:n.-1C>T | |
| ENST00000501272.6:c.-1C>T | ENSP00000424106.1:n.-1C>T | |
| ENST00000506395.5:c.-1C>T | ENSP00000421421.1:n.-1C>T | |
| ENST00000509016.5:n.130+273C>T | ||
| ENST00000511552.5:n.386C>T | ||
| ENST00000513428.5:n.165C>T | ||
| ENST00000513523.1:n.168C>T | ||
| ENST00000513728.1:c.-1C>T | ENSP00000427135.1:n.-1C>T | |
| ENST00000515017.5:c.-1C>T | ENSP00000424199.1:n.-1C>T | |
| NM_001154.3:c.-1C>T | NP_001145.1:n.-1C>T | |
| XM_017008141.2:c.-1C>T | XP_016863630.1:n.-1C>T | |
| NM_001154.4:c.-1C>T MANE Select | NP_001145.1:n.-1C>T |