Linked Data
dbSNP Id:
rs1311065591
gnomAD v2:
19-18900060-C-G
gnomAD v3:
19-18789251-C-G
gnomAD v4:
19-18789251-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789251C>G , CM000681.2:g.18789251C>G | GRCh38 |
| NC_000019.9:g.18900060C>G , CM000681.1:g.18900060C>G | GRCh37 |
| NC_000019.8:g.18761060C>G | NCBI36 |
| NG_007070.1:g.7055G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.437G>C MANE Select | ENSP00000222271.2:p.Ser146Thr | |
| ENST00000222271.6:c.437G>C | ENSP00000222271.2:p.Ser146Thr | |
| ENST00000425807.1:c.391-359G>C | ENSP00000403792.1:n.391-359G>C | |
| ENST00000542601.6:c.338G>C | ENSP00000439156.2:p.Ser113Thr | |
| NM_000095.2:c.437G>C | NP_000086.2:p.Ser146Thr | |
| NM_000095.3:c.437G>C MANE Select | NP_000086.2:p.Ser146Thr |