Linked Data
gnomAD v4:
19-3770778-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3770778G>T , CM000681.2:g.3770778G>T | GRCh38 |
| NC_000019.9:g.3770776G>T , CM000681.1:g.3770776G>T | GRCh37 |
| NC_000019.8:g.3721776G>T | NCBI36 |
| NG_011565.1:g.6444C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555633.3:c.398C>A MANE Select | ENSP00000450456.3:p.Pro133His | |
| ENST00000555633.2:c.398C>A | ENSP00000450456.2:p.Pro133His | |
| ENST00000555978.5:c.398C>A | ENSP00000450687.2:p.Pro133His | |
| NM_032753.3:c.398C>A | NP_116142.1:p.Pro133His | |
| XM_005259662.1:c.536C>A | XP_005259719.1:p.Pro179His | |
| NM_001319074.1:c.536C>A | NP_001306003.1:p.Pro179His | |
| NM_001319074.4:c.398C>A MANE Select | NP_001306003.2:p.Pro133His | |
| NM_032753.4:c.398C>A | NP_116142.1:p.Pro133His |