Linked Data
dbSNP Id:
rs1344440643
gnomAD v2:
14-29236565-C-G
gnomAD v3:
14-28767359-C-G
gnomAD v4:
14-28767359-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767359C>G , CM000676.2:g.28767359C>G | GRCh38 |
| NC_000014.8:g.29236565C>G , CM000676.1:g.29236565C>G | GRCh37 |
| NC_000014.7:g.28306316C>G | NCBI36 |
| NG_009367.1:g.5279C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.80C>G | ENSP00000516406.1:p.Ala27Gly | |
| ENST00000313071.7:c.80C>G MANE Select | ENSP00000339004.3:p.Ala27Gly | |
| ENST00000313071.6:c.80C>G | ENSP00000339004.3:p.Ala27Gly | |
| NM_005249.4:c.80C>G | NP_005240.3:p.Ala27Gly | |
| NM_005249.5:c.80C>G MANE Select | NP_005240.3:p.Ala27Gly |