Linked Data
dbSNP Id:
rs1290079858
gnomAD v2:
19-12997948-T-C
gnomAD v3:
19-12887134-T-C
gnomAD v4:
19-12887134-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887134T>C , CM000681.2:g.12887134T>C | GRCh38 |
| NC_000019.9:g.12997948T>C , CM000681.1:g.12997948T>C | GRCh37 |
| NC_000019.8:g.12858948T>C | NCBI36 |
| NG_009292.1:g.975T>C | |
| NG_013087.1:g.5070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.7A>G MANE Select | ENSP00000264834.3:p.Thr3Ala | |
| ENST00000264834.4:c.7A>G | ENSP00000264834.3:p.Thr3Ala | |
| NM_006563.3:c.7A>G | NP_006554.1:p.Thr3Ala | |
| NM_006563.4:c.7A>G | NP_006554.1:p.Thr3Ala | |
| NM_006563.5:c.7A>G MANE Select | NP_006554.1:p.Thr3Ala |