Linked Data
dbSNP Id:
rs373481547
ExAC:
7:40039034 A / G
gnomAD v2:
7-40039034-A-G
gnomAD v3:
7-39999435-A-G
gnomAD v4:
7-39999435-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39999435A>G , CM000669.2:g.39999435A>G | GRCh38 |
| NC_000007.13:g.40039034A>G , CM000669.1:g.40039034A>G | GRCh37 |
| NC_000007.12:g.40005559A>G | NCBI36 |
| NG_052965.1:g.54076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181839.10:c.2117A>G MANE Select | ENSP00000181839.4:p.Asp706Gly | |
| ENST00000340829.10:c.2117A>G | ENSP00000340557.5:p.Asp706Gly | |
| ENST00000484589.2:c.669A>G | ||
| ENST00000642213.1:n.599A>G | ||
| ENST00000643859.1:c.1008A>G | ||
| ENST00000643915.1:c.431A>G | ENSP00000496187.1:p.Asp144Gly | |
| ENST00000645470.1:c.47A>G | ENSP00000495036.1:p.Asp16Gly | |
| ENST00000646039.1:c.1457A>G | ENSP00000494168.1:p.Asp486Gly | |
| ENST00000646437.1:c.751A>G | ||
| ENST00000647453.1:n.1186A>G | ||
| ENST00000647518.1:n.3954A>G | ||
| ENST00000181839.8:c.2117A>G | ENSP00000181839.4:p.Asp706Gly | |
| ENST00000340829.9:c.2117A>G | ENSP00000340557.5:p.Asp706Gly | |
| ENST00000484589.1:n.669A>G | ||
| ENST00000611390.1:c.275A>G | ENSP00000484610.1:p.Asp92Gly | |
| ENST00000613626.4:c.275A>G | ENSP00000480835.1:p.Asp92Gly | |
| NM_003718.4:c.2117A>G | NP_003709.3:p.Asp706Gly | |
| NM_031267.3:c.2117A>G | NP_112557.2:p.Asp706Gly | |
| XM_011515597.1:c.2117A>G | XP_011513899.1:p.Asp706Gly | |
| XM_011515598.1:c.2117A>G | XP_011513900.1:p.Asp706Gly | |
| XM_011515597.3:c.2117A>G | XP_011513899.1:p.Asp706Gly | |
| XM_017012750.2:c.2117A>G | XP_016868239.1:p.Asp706Gly | |
| XM_017012751.2:c.2117A>G | XP_016868240.1:p.Asp706Gly | |
| NM_003718.5:c.2117A>G MANE Select | NP_003709.3:p.Asp706Gly |