Linked Data
dbSNP Id:
rs746723271
ExAC:
19:6686158 C / T
gnomAD v2:
19-6686158-C-T
gnomAD v3:
19-6686147-C-T
gnomAD v4:
19-6686147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686147C>T , CM000681.2:g.6686147C>T | GRCh38 |
| NC_000019.9:g.6686158C>T , CM000681.1:g.6686158C>T | GRCh37 |
| NC_000019.8:g.6637158C>T | NCBI36 |
| NG_009557.1:g.39505G>A , LRG_27:g.39505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2135G>A | ||
| ENST00000695652.1:c.3664G>A | ENSP00000512083.1:p.Gly1222Ser | |
| ENST00000695653.1:c.1696G>A | ENSP00000512084.1:p.Gly566Ser | |
| ENST00000695654.1:c.2812G>A | ENSP00000512085.1:p.Gly938Ser | |
| ENST00000695655.1:c.2728G>A | ENSP00000512086.1:n.2728G>A | |
| ENST00000695692.1:n.3151G>A | ||
| ENST00000245907.11:c.3787G>A MANE Select | ENSP00000245907.4:p.Gly1263Ser | |
| ENST00000245907.10:c.3787G>A | ENSP00000245907.4:p.Gly1263Ser | |
| ENST00000596238.1:n.230G>A | ||
| ENST00000601008.1:c.241+599G>A | ENSP00000471384.1:n.241+599G>A | |
| NM_000064.3:c.3787G>A | NP_000055.2:p.Gly1263Ser | |
| NM_000064.4:c.3787G>A MANE Select | NP_000055.2:p.Gly1263Ser |