Linked Data
dbSNP Id:
rs1312446944
gnomAD v2:
16-67974221-T-C
gnomAD v3:
16-67940318-T-C
gnomAD v4:
16-67940318-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940318T>C , CM000678.2:g.67940318T>C | GRCh38 |
| NC_000016.9:g.67974221T>C , CM000678.1:g.67974221T>C | GRCh37 |
| NC_000016.8:g.66531722T>C | NCBI36 |
| NG_009778.1:g.8795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.909A>G MANE Select | ENSP00000264005.5:p.Gln303= | |
| ENST00000264005.9:c.909A>G | ENSP00000264005.5:p.Gln303= | |
| ENST00000570369.5:c.156-244A>G | ||
| ENST00000570980.1:c.693A>G | ENSP00000464651.1:p.Gln231= | |
| ENST00000573538.5:c.647A>G | ENSP00000463220.1:n.647A>G | |
| NM_000229.1:c.909A>G | NP_000220.1:p.Gln303= | |
| NM_000229.2:c.909A>G MANE Select | NP_000220.1:p.Gln303= |