Linked Data
gnomAD v4:
4-119136483-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119136483C>A , CM000666.2:g.119136483C>A | GRCh38 |
| NC_000004.11:g.120057638C>A , CM000666.1:g.120057638C>A | GRCh37 |
| NC_000004.10:g.120277086C>A | NCBI36 |
| NG_029747.1:g.5700C>A , LRG_396:g.5700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.-14-29C>A MANE Select | ENSP00000306997.6:n.-14-29C>A | |
| ENST00000307128.5:c.-14-29C>A | ENSP00000306997.5:n.-14-29C>A | |
| NM_016599.4:c.-14-29C>A , LRG_396t1:c.-14-29C>A | NP_057683.1:n.-14-29C>A | |
| XM_006714234.2:c.-14-29C>A | XP_006714297.1:n.-14-29C>A | |
| XM_006714234.4:c.-14-29C>A | XP_006714297.1:n.-14-29C>A | |
| NM_016599.5:c.-14-29C>A MANE Select | NP_057683.1:n.-14-29C>A |