Linked Data
dbSNP Id:
rs1238096045
gnomAD v2:
16-23546295-T-C
gnomAD v3:
16-23534974-T-C
gnomAD v4:
16-23534974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23534974T>C , CM000678.2:g.23534974T>C | GRCh38 |
| NC_000016.9:g.23546295T>C , CM000678.1:g.23546295T>C | GRCh37 |
| NC_000016.8:g.23453796T>C | NCBI36 |
| NG_027752.1:g.27402A>G | |
| NG_027752.2:g.27402A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.872A>G MANE Select | ENSP00000395196.2:p.Asp291Gly | |
| ENST00000674054.1:c.872A>G | ENSP00000501251.1:p.Asp291Gly | |
| ENST00000449606.5:c.872A>G | ENSP00000395196.1:p.Asp291Gly | |
| ENST00000562402.1:n.476A>G | ||
| ENST00000563232.1:c.872A>G | ENSP00000456218.1:p.Asp291Gly | |
| ENST00000563459.5:c.872A>G | ENSP00000456467.1:p.Asp291Gly | |
| ENST00000564501.5:c.872A>G | ENSP00000457107.1:p.Asp291Gly | |
| ENST00000564987.1:n.496A>G | ||
| ENST00000565344.1:n.245A>G | ||
| NM_001083614.1:c.872A>G | NP_001077083.1:p.Asp291Gly | |
| NM_001308211.1:c.872A>G | NP_001295140.1:p.Asp291Gly | |
| NR_003501.1:n.904A>G | ||
| XM_011545738.1:c.800A>G | XP_011544040.1:p.Asp267Gly | |
| XM_011545739.1:c.593A>G | XP_011544041.1:p.Asp198Gly | |
| XR_001751841.1:n.1194A>G | ||
| NM_001083614.2:c.872A>G MANE Select | NP_001077083.1:p.Asp291Gly | |
| NR_003501.2:n.879A>G |