Linked Data
gnomAD v4:
4-67740509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740509G>A , CM000666.2:g.67740509G>A | GRCh38 |
| NC_000004.11:g.68606227G>A , CM000666.1:g.68606227G>A | GRCh37 |
| NC_000004.10:g.68288822G>A | NCBI36 |
| NG_009293.1:g.20578C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.958C>T MANE Select | ENSP00000226413.5:p.Pro320Ser | |
| ENST00000226413.4:c.958C>T | ENSP00000226413.4:p.Pro320Ser | |
| ENST00000420975.2:c.830C>T | ENSP00000397561.2:n.830C>T | |
| NM_000406.2:c.958C>T | NP_000397.1:p.Pro320Ser | |
| NM_001012763.1:c.*80C>T | NP_001012781.1:n.*80C>T | |
| NM_000406.3:c.958C>T MANE Select | NP_000397.1:p.Pro320Ser | |
| NM_001012763.2:c.*80C>T | NP_001012781.1:n.*80C>T |