Linked Data
dbSNP Id:
rs866613328
gnomAD v2:
19-6713419-G-A
gnomAD v3:
19-6713408-G-A
gnomAD v4:
19-6713408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713408G>A , CM000681.2:g.6713408G>A | GRCh38 |
| NC_000019.9:g.6713419G>A , CM000681.1:g.6713419G>A | GRCh37 |
| NC_000019.8:g.6664419G>A | NCBI36 |
| NG_009557.1:g.12244C>T , LRG_27:g.12244C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.752C>T | ENSP00000512083.1:p.Pro251Leu | |
| ENST00000695692.1:n.199C>T | ||
| ENST00000245907.11:c.875C>T MANE Select | ENSP00000245907.4:p.Pro292Leu | |
| ENST00000245907.10:c.875C>T | ENSP00000245907.4:p.Pro292Leu | |
| ENST00000595577.1:n.379C>T | ||
| ENST00000597442.5:n.125C>T | ||
| NM_000064.3:c.875C>T | NP_000055.2:p.Pro292Leu | |
| NM_000064.4:c.875C>T MANE Select | NP_000055.2:p.Pro292Leu |