Linked Data
ClinVar Variation Id:
210554
dbSNP Id:
rs148005445
ExAC:
5:37138824 G / A
gnomAD v2:
5-37138824-G-A
gnomAD v3:
5-37138722-G-A
gnomAD v4:
5-37138722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37138722G>A , CM000667.2:g.37138722G>A | GRCh38 |
| NC_000005.9:g.37138824G>A , CM000667.1:g.37138824G>A | GRCh37 |
| NC_000005.8:g.37174581G>A | NCBI36 |
| NG_032772.1:g.115707C>T | |
| NG_032772.2:g.115707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1789C>T | ||
| ENST00000651892.2:c.8790C>T MANE Select | ENSP00000498265.2:p.Ser2930= | |
| ENST00000425232.6:c.8628C>T | ENSP00000389014.2:p.Ser2876= | |
| ENST00000504716.1:n.375C>T | ||
| ENST00000505121.1:n.490C>T | ||
| ENST00000508244.5:c.8628C>T | ENSP00000421690.1:p.Ser2876= | |
| ENST00000509849.5:c.5771C>T | ENSP00000426337.1:n.5771C>T | |
| ENST00000509957.5:n.3971C>T | ||
| ENST00000512288.5:n.339C>T | ||
| ENST00000514429.5:c.5826C>T | ENSP00000424223.1:p.Ser1942= | |
| NM_023073.3:c.8628C>T | NP_075561.3:p.Ser2876= | |
| XM_005248345.2:c.8790C>T | XP_005248402.1:p.Ser2930= | |
| XM_005248346.2:c.8787C>T | XP_005248403.1:p.Ser2929= | |
| XM_005248347.2:c.8787C>T | XP_005248404.1:p.Ser2929= | |
| XM_005248349.2:c.8679C>T | XP_005248406.1:p.Ser2893= | |
| XM_005248350.2:c.8661C>T | XP_005248407.1:p.Ser2887= | |
| XM_005248353.3:c.5433C>T | XP_005248410.1:p.Ser1811= | |
| XM_006714489.2:c.8790C>T | XP_006714552.1:p.Ser2930= | |
| XM_006714491.2:c.3363C>T | XP_006714554.1:p.Ser1121= | |
| XM_011514085.1:c.8790C>T | XP_011512387.1:p.Ser2930= | |
| XM_011514086.1:c.8790C>T | XP_011512388.1:p.Ser2930= | |
| XM_011514087.1:c.8736C>T | XP_011512389.1:p.Ser2912= | |
| XM_011514088.1:c.8682C>T | XP_011512390.1:p.Ser2894= | |
| XM_011514089.1:c.8790C>T | XP_011512391.1:p.Ser2930= | |
| XM_011514090.1:c.8472C>T | XP_011512392.1:p.Ser2824= | |
| XM_011514091.1:c.8118C>T | XP_011512393.1:p.Ser2706= | |
| XM_011514092.1:c.8790C>T | XP_011512394.1:p.Ser2930= | |
| XM_011514094.1:c.6015C>T | XP_011512396.1:p.Ser2005= | |
| XR_427661.2:n.8965C>T | ||
| XR_925644.1:n.8965C>T | ||
| XM_005248345.4:c.8790C>T | XP_005248402.1:p.Ser2930= | |
| XM_005248346.4:c.8787C>T | XP_005248403.1:p.Ser2929= | |
| XM_005248347.4:c.8787C>T | XP_005248404.1:p.Ser2929= | |
| XM_005248349.4:c.8679C>T | XP_005248406.1:p.Ser2893= | |
| XM_005248350.4:c.8661C>T | XP_005248407.1:p.Ser2887= | |
| XM_006714491.3:c.3363C>T | XP_006714554.1:p.Ser1121= | |
| XM_011514085.3:c.8790C>T | XP_011512387.1:p.Ser2930= | |
| XM_011514086.3:c.8790C>T | XP_011512388.1:p.Ser2930= | |
| XM_011514087.2:c.8736C>T | XP_011512389.1:p.Ser2912= | |
| XM_011514088.2:c.8682C>T | XP_011512390.1:p.Ser2894= | |
| XM_011514089.2:c.8790C>T | XP_011512391.1:p.Ser2930= | |
| XM_011514090.3:c.8472C>T | XP_011512392.1:p.Ser2824= | |
| XM_011514092.2:c.8790C>T | XP_011512394.1:p.Ser2930= | |
| XM_011514094.2:c.6015C>T | XP_011512396.1:p.Ser2005= | |
| XM_017009760.1:c.8601C>T | XP_016865249.1:p.Ser2867= | |
| XM_017009761.2:c.8601C>T | XP_016865250.1:p.Ser2867= | |
| XM_017009763.1:c.7797C>T | XP_016865252.1:p.Ser2599= | |
| XM_017009765.1:c.7602C>T | XP_016865254.1:p.Ser2534= | |
| XM_017009766.1:c.5433C>T | XP_016865255.1:p.Ser1811= | |
| XM_024446183.1:c.8601C>T | XP_024301951.1:p.Ser2867= | |
| XM_024446184.1:c.8472C>T | XP_024301952.1:p.Ser2824= | |
| XM_024446185.1:c.8118C>T | XP_024301953.1:p.Ser2706= | |
| XM_024446186.1:c.7797C>T | XP_024301954.1:p.Ser2599= | |
| XR_001742208.1:n.8959C>T | ||
| XR_925644.2:n.9014C>T | ||
| NM_001384732.1:c.8790C>T MANE Select | NP_001371661.1:p.Ser2930= | |
| NM_023073.4:c.8628C>T | NP_075561.3:p.Ser2876= |