Linked Data
dbSNP Id:
rs6971
ExAC:
22:43558926 A / G
gnomAD v2:
22-43558926-A-G
gnomAD v3:
22-43162920-A-G
gnomAD v4:
22-43162920-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162920A>G , CM000684.2:g.43162920A>G | GRCh38 |
| NC_000022.10:g.43558926A>G , CM000684.1:g.43558926A>G | GRCh37 |
| NC_000022.9:g.41888870A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337554.8:c.439A>G MANE Select | ENSP00000338004.3:p.Thr147Ala | |
| ENST00000329563.8:c.439A>G | ENSP00000328973.4:p.Thr147Ala | |
| ENST00000337554.7:c.439A>G | ENSP00000338004.3:p.Thr147Ala | |
| ENST00000396265.4:c.439A>G | ENSP00000379563.4:p.Thr147Ala | |
| ENST00000583777.5:c.127A>G | ENSP00000463495.1:p.Thr43Ala | |
| NM_000714.5:c.439A>G | NP_000705.2:p.Thr147Ala | |
| NM_001256530.1:c.439A>G | NP_001243459.1:p.Thr147Ala | |
| NM_001256531.1:c.439A>G | NP_001243460.1:p.Thr147Ala | |
| NR_046308.1:n.348A>G | ||
| NM_000714.6:c.439A>G MANE Select | NP_000705.2:p.Thr147Ala | |
| NR_046308.2:n.303A>G |