Linked Data
dbSNP Id:
rs941156527
gnomAD v2:
4-122618130-T-A
gnomAD v3:
4-121696975-T-A
gnomAD v4:
4-121696975-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696975T>A , CM000666.2:g.121696975T>A | GRCh38 |
| NC_000004.11:g.122618130T>A , CM000666.1:g.122618130T>A | GRCh37 |
| NC_000004.10:g.122837580T>A | NCBI36 |
| NG_032042.1:g.5018A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-148A>T MANE Select | ENSP00000296511.5:n.-148A>T | |
| ENST00000296511.9:c.-148A>T | ENSP00000296511.5:n.-148A>T | |
| ENST00000509016.5:n.18A>T | ||
| ENST00000511552.5:n.1A>T | ||
| ENST00000513428.5:n.18A>T | ||
| ENST00000513523.1:n.21A>T | ||
| ENST00000513728.1:c.-148A>T | ENSP00000427135.1:n.-148A>T | |
| NM_001154.3:c.-148A>T | NP_001145.1:n.-148A>T | |
| XM_017008141.2:c.-148A>T | XP_016863630.1:n.-148A>T | |
| NM_001154.4:c.-148A>T MANE Select | NP_001145.1:n.-148A>T |