Linked Data
gnomAD v4:
4-88008224-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008224G>T , CM000666.2:g.88008224G>T | GRCh38 |
| NC_000004.11:g.88929376G>T , CM000666.1:g.88929376G>T | GRCh37 |
| NC_000004.10:g.89148400G>T | NCBI36 |
| NG_008604.1:g.5557G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.491G>T MANE Select | ENSP00000237596.2:p.Cys164Phe | |
| ENST00000237596.6:c.491G>T | ENSP00000237596.2:p.Cys164Phe | |
| NM_000297.3:c.491G>T | NP_000288.1:p.Cys164Phe | |
| XM_011532028.1:c.491G>T | XP_011530330.1:p.Cys164Phe | |
| XR_244632.2:n.586G>T | ||
| NR_156488.1:n.578G>T | ||
| XM_011532028.2:c.491G>T | XP_011530330.1:p.Cys164Phe | |
| NM_000297.4:c.491G>T MANE Select | NP_000288.1:p.Cys164Phe | |
| NR_156488.2:n.590G>T |