Linked Data
ClinVar Variation Id:
540171
dbSNP Id:
rs773571503
ExAC:
7:2577840 T / C
gnomAD v2:
7-2577840-T-C
gnomAD v3:
7-2538206-T-C
gnomAD v4:
7-2538206-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2538206T>C , CM000669.2:g.2538206T>C | GRCh38 |
| NC_000007.13:g.2577840T>C , CM000669.1:g.2577840T>C | GRCh37 |
| NC_000007.12:g.2544366T>C | NCBI36 |
| NG_032167.1:g.22553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.2329A>G MANE Select | ENSP00000339637.4:p.Arg777Gly | |
| ENST00000340611.8:c.2329A>G | ENSP00000339637.4:p.Arg777Gly | |
| ENST00000467558.5:n.4115A>G | ||
| ENST00000469750.5:n.4901A>G | ||
| ENST00000493232.5:n.5035A>G | ||
| NM_152743.3:c.2329A>G | NP_689956.2:p.Arg777Gly | |
| XM_005249643.3:c.2509A>G | XP_005249700.1:p.Arg837Gly | |
| XM_011515177.1:c.2593A>G | XP_011513479.1:p.Arg865Gly | |
| XM_011515178.1:c.2593A>G | XP_011513480.1:p.Arg865Gly | |
| XM_011515179.1:c.2590A>G | XP_011513481.1:p.Arg864Gly | |
| XM_011515180.1:c.2563A>G | XP_011513482.1:p.Arg855Gly | |
| XM_011515181.1:c.2413A>G | XP_011513483.1:p.Arg805Gly | |
| XM_011515182.1:c.2593A>G | XP_011513484.1:p.Arg865Gly | |
| XM_011515183.1:c.2068A>G | XP_011513485.1:p.Arg690Gly | |
| XM_011515184.1:c.2068A>G | XP_011513486.1:p.Arg690Gly | |
| XM_011515185.1:c.2329A>G | XP_011513487.1:p.Arg777Gly | |
| XM_011515187.1:c.1165A>G | XP_011513489.1:p.Arg389Gly | |
| NM_001350626.1:c.2509A>G | NP_001337555.1:p.Arg837Gly | |
| NM_001350627.1:c.1804A>G | NP_001337556.1:p.Arg602Gly | |
| NR_146879.1:n.2746A>G | ||
| XM_011515177.2:c.2593A>G | XP_011513479.1:p.Arg865Gly | |
| XM_011515179.2:c.2590A>G | XP_011513481.1:p.Arg864Gly | |
| XM_011515181.2:c.2413A>G | XP_011513483.1:p.Arg805Gly | |
| XM_011515182.2:c.2593A>G | XP_011513484.1:p.Arg865Gly | |
| XM_011515184.3:c.2068A>G | XP_011513486.1:p.Arg690Gly | |
| XM_011515186.2:c.*476A>G | XP_011513488.1:n.*476A>G | |
| XM_017011833.1:c.2506A>G | XP_016867322.1:p.Arg836Gly | |
| XM_017011834.1:c.2326A>G | XP_016867323.1:p.Arg776Gly | |
| XM_017011836.2:c.*476A>G | XP_016867325.1:n.*476A>G | |
| XM_024446682.1:c.1165A>G | XP_024302450.1:p.Arg389Gly | |
| NM_152743.4:c.2329A>G MANE Select | NP_689956.2:p.Arg777Gly | |
| NM_001350626.2:c.2509A>G | NP_001337555.1:p.Arg837Gly | |
| NM_001350627.2:c.1804A>G | NP_001337556.1:p.Arg602Gly | |
| NR_146879.2:n.2512A>G |