Linked Data
dbSNP Id:
rs775994850
ExAC:
19:6713556 C / A
gnomAD v2:
19-6713556-C-A
gnomAD v4:
19-6713545-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713545C>A , CM000681.2:g.6713545C>A | GRCh38 |
| NC_000019.9:g.6713556C>A , CM000681.1:g.6713556C>A | GRCh37 |
| NC_000019.8:g.6664556C>A | NCBI36 |
| NG_009557.1:g.12107G>T , LRG_27:g.12107G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-36G>T | ENSP00000512083.1:n.651-36G>T | |
| ENST00000695692.1:n.62G>T | ||
| ENST00000245907.11:c.774-36G>T MANE Select | ENSP00000245907.4:n.774-36G>T | |
| ENST00000245907.10:c.774-36G>T | ENSP00000245907.4:n.774-36G>T | |
| ENST00000595577.1:n.278-36G>T | ||
| ENST00000597442.5:n.24-36G>T | ||
| NM_000064.3:c.774-36G>T | NP_000055.2:n.774-36G>T | |
| NM_000064.4:c.774-36G>T MANE Select | NP_000055.2:n.774-36G>T |