Linked Data
dbSNP Id:
rs1190884477
gnomAD v2:
9-130578266-C-G
gnomAD v3:
9-127815987-C-G
gnomAD v4:
9-127815987-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815987C>G , CM000671.2:g.127815987C>G | GRCh38 |
| NC_000009.11:g.130578266C>G , CM000671.1:g.130578266C>G | GRCh37 |
| NC_000009.10:g.129618087C>G | NCBI36 |
| NG_009551.1:g.43782G>C , LRG_589:g.43782G>C | |
| NG_023245.1:g.18113C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1262G>C | ENSP00000479015.1:p.Gly421Ala | |
| ENST00000373203.9:c.1808G>C MANE Select | ENSP00000362299.4:p.Gly603Ala | |
| ENST00000344849.4:c.1808G>C | ENSP00000341917.3:p.Gly603Ala | |
| ENST00000373203.8:c.1808G>C | ENSP00000362299.4:p.Gly603Ala | |
| ENST00000480266.5:c.1262G>C | ENSP00000479015.1:p.Gly421Ala | |
| NM_000118.3:c.1808G>C , LRG_589t1:c.1808G>C | NP_000109.1:p.Gly603Ala | |
| NM_001114753.2:c.1808G>C , LRG_589t2:c.1808G>C | NP_001108225.1:p.Gly603Ala | |
| NM_001278138.1:c.1262G>C | NP_001265067.1:p.Gly421Ala | |
| NM_001114753.3:c.1808G>C MANE Select | NP_001108225.1:p.Gly603Ala | |
| NM_001278138.2:c.1262G>C | NP_001265067.1:p.Gly421Ala |