Linked Data
ClinVar Variation Id:
330317
dbSNP Id:
rs2230205
ExAC:
19:6709704 C / T
gnomAD v2:
19-6709704-C-T
gnomAD v3:
19-6709693-C-T
gnomAD v4:
19-6709693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709693C>T , CM000681.2:g.6709693C>T | GRCh38 |
| NC_000019.9:g.6709704C>T , CM000681.1:g.6709704C>T | GRCh37 |
| NC_000019.8:g.6660704C>T | NCBI36 |
| NG_009557.1:g.15959G>A , LRG_27:g.15959G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695652.1:c.1713G>A | ENSP00000512083.1:p.Thr571= | |
| ENST00000695654.1:c.960G>A | ENSP00000512085.1:p.Thr320= | |
| ENST00000695655.1:c.777G>A | ENSP00000512086.1:n.777G>A | |
| ENST00000695692.1:n.1200G>A | ||
| ENST00000245907.11:c.1836G>A MANE Select | ENSP00000245907.4:p.Thr612= | |
| ENST00000245907.10:c.1836G>A | ENSP00000245907.4:p.Thr612= | |
| NM_000064.3:c.1836G>A | NP_000055.2:p.Thr612= | |
| NM_000064.4:c.1836G>A MANE Select | NP_000055.2:p.Thr612= |