Linked Data
dbSNP Id:
rs781425374
ExAC:
2:157435417 C / G
gnomAD v2:
2-157435417-C-G
gnomAD v4:
2-156578905-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156578905C>G , CM000664.2:g.156578905C>G | GRCh38 |
| NC_000002.11:g.157435417C>G , CM000664.1:g.157435417C>G | GRCh37 |
| NC_000002.10:g.157143663C>G | NCBI36 |
| NG_016606.1:g.148453C>G | |
| NG_016606.2:g.148453C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1784C>G MANE Select | ENSP00000409708.2:p.Ala595Gly | |
| ENST00000310454.10:c.1784C>G | ENSP00000308610.5:p.Ala595Gly | |
| ENST00000409125.8:c.1406C>G | ENSP00000386484.5:p.Ala469Gly | |
| ENST00000409674.5:c.1784C>G | ENSP00000386425.1:p.Ala595Gly | |
| ENST00000409861.5:c.1784C>G | ENSP00000386626.1:p.Ala595Gly | |
| ENST00000438166.6:c.1784C>G | ENSP00000409708.2:p.Ala595Gly | |
| ENST00000464846.5:n.138C>G | ||
| ENST00000540309.5:c.1135-181C>G | ENSP00000440892.1:n.1135-181C>G | |
| NM_000408.4:c.1784C>G | NP_000399.3:p.Ala595Gly | |
| NM_001083112.2:c.1784C>G | NP_001076581.2:p.Ala595Gly | |
| XM_005246469.1:c.1784C>G | XP_005246526.1:p.Ala595Gly | |
| XM_005246470.3:c.1682C>G | XP_005246527.1:p.Ala561Gly | |
| XM_011510977.1:c.1784C>G | XP_011509279.1:p.Ala595Gly | |
| XM_011510978.1:c.1682C>G | XP_011509280.1:p.Ala561Gly | |
| XM_011510979.1:c.1406C>G | XP_011509281.1:p.Ala469Gly | |
| XM_011510980.1:c.1103C>G | XP_011509282.1:p.Ala368Gly | |
| XM_005246469.2:c.1784C>G | XP_005246526.1:p.Ala595Gly | |
| XM_011510977.2:c.1784C>G | XP_011509279.1:p.Ala595Gly | |
| XM_011510978.2:c.1682C>G | XP_011509280.1:p.Ala561Gly | |
| XM_017003830.1:c.1784C>G | XP_016859319.1:p.Ala595Gly | |
| XM_024452798.1:c.1784C>G | XP_024308566.1:p.Ala595Gly | |
| NM_000408.5:c.1784C>G MANE Select | NP_000399.3:p.Ala595Gly | |
| NM_001083112.3:c.1784C>G | NP_001076581.2:p.Ala595Gly |