Linked Data
gnomAD v4:
19-17816867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816867A>G , CM000681.2:g.17816867A>G | GRCh38 |
| NC_000019.9:g.17927676A>G , CM000681.1:g.17927676A>G | GRCh37 |
| NC_000019.8:g.17788676A>G | NCBI36 |
| NG_012092.1:g.9645T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317306.8:c.383T>C MANE Select | ENSP00000321724.6:p.Leu128Pro | |
| ENST00000317306.7:c.383T>C | ENSP00000321724.6:p.Leu128Pro | |
| ENST00000379695.5:c.*4T>C | ENSP00000369017.4:n.*4T>C | |
| ENST00000598577.1:c.404T>C | ||
| NM_001265587.1:c.*4T>C | NP_001252516.1:n.*4T>C | |
| NM_005543.3:c.383T>C | NP_005534.2:p.Leu128Pro | |
| NM_001265587.2:c.*4T>C | NP_001252516.1:n.*4T>C | |
| NM_005543.4:c.383T>C MANE Select | NP_005534.2:p.Leu128Pro |