Linked Data
ClinVar Variation Id:
1511646
dbSNP Id:
rs748762712
ExAC:
7:150655332 G / C
gnomAD v2:
7-150655332-G-C
gnomAD v3:
7-150958244-G-C
gnomAD v4:
7-150958244-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958244G>C , CM000669.2:g.150958244G>C | GRCh38 |
| NC_000007.13:g.150655332G>C , CM000669.1:g.150655332G>C | GRCh37 |
| NC_000007.12:g.150286265G>C | NCBI36 |
| NG_008916.1:g.24683C>G , LRG_288:g.24683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1564C>G | ||
| ENST00000262186.10:c.731C>G MANE Select | ENSP00000262186.5:p.Ala244Gly | |
| ENST00000262186.9:c.731C>G | ENSP00000262186.5:p.Ala244Gly | |
| ENST00000430723.4:c.383C>G | ENSP00000387657.4:p.Ala128Gly | |
| ENST00000532957.5:n.954C>G | ||
| NM_000238.3:c.731C>G , LRG_288t1:c.731C>G | NP_000229.1:p.Ala244Gly | |
| NM_172056.2:c.731C>G , LRG_288t2:c.731C>G | NP_742053.1:p.Ala244Gly | |
| XM_011516185.1:c.431C>G | XP_011514487.1:p.Ala144Gly | |
| XM_011516186.1:c.731C>G | XP_011514488.1:p.Ala244Gly | |
| XM_011516185.2:c.431C>G | XP_011514487.1:p.Ala144Gly | |
| XM_011516186.3:c.731C>G | XP_011514488.1:p.Ala244Gly | |
| XM_017012195.1:c.581C>G | XP_016867684.1:p.Ala194Gly | |
| XM_017012196.1:c.554C>G | XP_016867685.1:p.Ala185Gly | |
| NM_000238.4:c.731C>G MANE Select | NP_000229.1:p.Ala244Gly |