Linked Data
gnomAD v4:
4-121696979-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696979C>A , CM000666.2:g.121696979C>A | GRCh38 |
| NC_000004.11:g.122618134C>A , CM000666.1:g.122618134C>A | GRCh37 |
| NC_000004.10:g.122837584C>A | NCBI36 |
| NG_032042.1:g.5014G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-152G>T MANE Select | ENSP00000296511.5:n.-152G>T | |
| ENST00000296511.9:c.-152G>T | ENSP00000296511.5:n.-152G>T | |
| ENST00000509016.5:n.14G>T | ||
| ENST00000513428.5:n.14G>T | ||
| ENST00000513523.1:n.17G>T | ||
| NM_001154.3:c.-152G>T | NP_001145.1:n.-152G>T | |
| XM_017008141.2:c.-152G>T | XP_016863630.1:n.-152G>T | |
| NM_001154.4:c.-152G>T MANE Select | NP_001145.1:n.-152G>T |