Linked Data
dbSNP Id:
rs149230665
ExAC:
2:240005917 G / C
gnomAD v2:
2-240005917-G-C
gnomAD v3:
2-239084221-G-C
gnomAD v4:
2-239084221-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239084221G>C , CM000664.2:g.239084221G>C | GRCh38 |
| NC_000002.11:g.240005917G>C , CM000664.1:g.240005917G>C | GRCh37 |
| NC_000002.10:g.239670854G>C | NCBI36 |
| NG_009235.1:g.321727C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690129.1:n.480C>G | ||
| ENST00000543185.6:c.2466C>G MANE Select | ENSP00000440481.3:p.Ser822= | |
| ENST00000345617.7:c.2451C>G | ENSP00000264606.3:p.Ser817= | |
| ENST00000487617.5:n.358C>G | ||
| ENST00000543185.5:c.2115C>G | ENSP00000440481.2:p.Ser705= | |
| NM_006037.3:c.2451C>G | NP_006028.2:p.Ser817= | |
| XM_006712877.2:c.2523C>G | XP_006712940.1:p.Ser841= | |
| XM_006712878.2:c.2466C>G | XP_006712941.1:p.Ser822= | |
| XM_006712879.2:c.2385C>G | XP_006712942.1:p.Ser795= | |
| XM_006712880.2:c.2385C>G | XP_006712943.1:p.Ser795= | |
| XM_011512217.1:c.2538C>G | XP_011510519.1:p.Ser846= | |
| XM_011512218.1:c.2523C>G | XP_011510520.1:p.Ser841= | |
| XM_011512219.1:c.2508C>G | XP_011510521.1:p.Ser836= | |
| XM_011512220.1:c.2469C>G | XP_011510522.1:p.Ser823= | |
| XM_011512221.1:c.2466C>G | XP_011510523.1:p.Ser822= | |
| XM_011512222.1:c.2466C>G | XP_011510524.1:p.Ser822= | |
| XM_011512223.1:c.2466C>G | XP_011510525.1:p.Ser822= | |
| XM_011512224.1:c.2451C>G | XP_011510526.1:p.Ser817= | |
| XM_011512225.1:c.2436C>G | XP_011510527.1:p.Ser812= | |
| XM_011512226.1:c.2394C>G | XP_011510528.1:p.Ser798= | |
| XM_011512227.1:c.2322C>G | XP_011510529.1:p.Ser774= | |
| XM_011512228.1:c.2385C>G | XP_011510530.1:p.Ser795= | |
| XM_011512229.1:c.2385C>G | XP_011510531.1:p.Ser795= | |
| XM_011512230.1:c.1218C>G | XP_011510532.1:p.Ser406= | |
| XM_006712877.3:c.2523C>G | XP_006712940.1:p.Ser841= | |
| XM_006712878.3:c.2466C>G | XP_006712941.1:p.Ser822= | |
| XM_006712879.3:c.2385C>G | XP_006712942.1:p.Ser795= | |
| XM_006712880.3:c.2385C>G | XP_006712943.1:p.Ser795= | |
| XM_011512217.2:c.2538C>G | XP_011510519.1:p.Ser846= | |
| XM_011512218.2:c.2523C>G | XP_011510520.1:p.Ser841= | |
| XM_011512219.2:c.2508C>G | XP_011510521.1:p.Ser836= | |
| XM_011512220.2:c.2469C>G | XP_011510522.1:p.Ser823= | |
| XM_011512222.3:c.2466C>G | XP_011510524.1:p.Ser822= | |
| XM_011512223.2:c.2466C>G | XP_011510525.1:p.Ser822= | |
| XM_011512224.2:c.2451C>G | XP_011510526.1:p.Ser817= | |
| XM_011512225.2:c.2436C>G | XP_011510527.1:p.Ser812= | |
| XM_011512226.2:c.2394C>G | XP_011510528.1:p.Ser798= | |
| XM_011512227.2:c.2322C>G | XP_011510529.1:p.Ser774= | |
| XM_017005394.1:c.2406C>G | XP_016860883.1:p.Ser802= | |
| XM_017005395.1:c.1950C>G | XP_016860884.1:p.Ser650= | |
| XM_024453257.1:c.2385C>G | XP_024309025.1:p.Ser795= | |
| NM_001378414.1:c.2466C>G MANE Select | NP_001365343.1:p.Ser822= | |
| NM_001378415.1:c.2466C>G | NP_001365344.1:p.Ser822= | |
| NM_001378416.1:c.2451C>G | NP_001365345.1:p.Ser817= | |
| NM_001378417.1:c.2451C>G | NP_001365346.1:p.Ser817= | |
| NM_006037.4:c.2451C>G | NP_006028.2:p.Ser817= |