Linked Data
dbSNP Id:
rs748887436
ExAC:
17:42331868 T / C
gnomAD v2:
17-42331868-T-C
gnomAD v4:
17-44254500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254500T>C , CM000679.2:g.44254500T>C | GRCh38 |
| NC_000017.10:g.42331868T>C , CM000679.1:g.42331868T>C | GRCh37 |
| NC_000017.9:g.39687394T>C | NCBI36 |
| NG_007498.1:g.18635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2053A>G MANE Select | ENSP00000262418.6:p.Thr685Ala | |
| ENST00000262418.10:c.2053A>G | ENSP00000262418.6:p.Thr685Ala | |
| ENST00000399246.3:c.955A>G | ENSP00000382190.3:p.Thr319Ala | |
| NM_000342.3:c.2053A>G | NP_000333.1:p.Thr685Ala | |
| XM_005257593.3:c.1858A>G | XP_005257650.1:p.Thr620Ala | |
| XM_011525129.1:c.1963A>G | XP_011523431.1:p.Thr655Ala | |
| XM_011525130.1:c.2053A>G | XP_011523432.1:p.Thr685Ala | |
| XM_011525131.1:c.2053A>G | XP_011523433.1:p.Thr685Ala | |
| XM_005257593.5:c.1858A>G | XP_005257650.1:p.Thr620Ala | |
| XM_011525129.2:c.1963A>G | XP_011523431.1:p.Thr655Ala | |
| NM_000342.4:c.2053A>G MANE Select | NP_000333.1:p.Thr685Ala |