Linked Data
ClinVar Variation Id:
2475860
ClinVar RCV Id:
RCV004268905
dbSNP Id:
rs773998573
ExAC:
10:104121541 G / C
gnomAD v2:
10-104121541-G-C
gnomAD v4:
10-102361784-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102361784G>C , CM000672.2:g.102361784G>C | GRCh38 |
| NC_000010.10:g.104121541G>C , CM000672.1:g.104121541G>C | GRCh37 |
| NC_000010.9:g.104111531G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369983.5:c.1558G>C MANE Select | ENSP00000359000.4:p.Glu520Gln | |
| ENST00000369983.4:c.1558G>C | ENSP00000359000.4:p.Glu520Gln | |
| ENST00000673650.1:c.1654G>C | ENSP00000501233.1:p.Glu552Gln | |
| ENST00000674034.1:c.1630G>C | ENSP00000501064.1:p.Glu544Gln | |
| ENST00000676513.1:c.1555G>C | ENSP00000503207.1:p.Glu519Gln | |
| ENST00000676560.1:n.1826G>C | ||
| ENST00000676682.1:c.*921G>C | ENSP00000503097.1:n.*921G>C | |
| ENST00000676807.1:n.1800G>C | ||
| ENST00000676939.1:c.1555G>C | ENSP00000503981.1:p.Glu519Gln | |
| ENST00000676993.1:c.1555G>C | ENSP00000503918.1:p.Glu519Gln | |
| ENST00000677017.1:c.99+664G>C | ENSP00000504632.1:n.99+664G>C | |
| ENST00000677240.1:c.1558G>C | ENSP00000503428.1:p.Glu520Gln | |
| ENST00000677247.1:c.1555G>C | ENSP00000504013.1:p.Glu519Gln | |
| ENST00000677439.1:c.1555G>C | ENSP00000503565.1:p.Glu519Gln | |
| ENST00000677487.1:n.1826G>C | ||
| ENST00000677504.1:c.279G>C | ||
| ENST00000677506.1:n.1826G>C | ||
| ENST00000677618.1:c.1390-691G>C | ENSP00000502877.1:n.1390-691G>C | |
| ENST00000677627.1:c.99+664G>C | ENSP00000504307.1:n.99+664G>C | |
| ENST00000677655.1:c.1555G>C | ENSP00000504432.1:p.Glu519Gln | |
| ENST00000677662.1:c.233G>C | ENSP00000503788.1:n.233G>C | |
| ENST00000678014.1:c.67G>C | ENSP00000504256.1:p.Glu23Gln | |
| ENST00000678036.1:c.1555G>C | ENSP00000502947.1:p.Glu519Gln | |
| ENST00000678351.1:c.1390-691G>C | ENSP00000502966.1:n.1390-691G>C | |
| ENST00000678426.1:c.67G>C | ENSP00000504485.1:p.Glu23Gln | |
| ENST00000678476.1:c.1555G>C | ENSP00000503655.1:p.Glu519Gln | |
| ENST00000678504.1:c.1555G>C | ENSP00000503983.1:p.Glu519Gln | |
| ENST00000678666.1:n.1826G>C | ||
| ENST00000679139.1:c.212+1389G>C | ||
| ENST00000679155.1:c.*101G>C | ENSP00000503529.1:n.*101G>C | |
| ENST00000679238.1:c.1555G>C | ENSP00000504214.1:p.Glu519Gln | |
| ENST00000679280.1:n.2366G>C | ||
| ENST00000369983.3:c.1555G>C | ENSP00000359000.3:p.Glu519Gln | |
| NM_001199378.1:c.1558G>C | NP_001186307.1:p.Glu520Gln | |
| NM_001199379.1:c.1555G>C | NP_001186308.1:p.Glu519Gln | |
| NM_004193.2:c.1555G>C | NP_004184.1:p.Glu519Gln | |
| XM_005270261.1:c.1558G>C | XP_005270318.1:p.Glu520Gln | |
| XM_006718047.1:c.1657G>C | XP_006718110.1:p.Glu553Gln | |
| XM_006718048.1:c.1654G>C | XP_006718111.1:p.Glu552Gln | |
| XM_006718049.1:c.1657G>C | XP_006718112.1:p.Glu553Gln | |
| XM_006718050.1:c.1657G>C | XP_006718113.1:p.Glu553Gln | |
| XM_006718051.1:c.1657G>C | XP_006718114.1:p.Glu553Gln | |
| XM_011540312.1:c.1657G>C | XP_011538614.1:p.Glu553Gln | |
| XM_011540313.1:c.1657G>C | XP_011538615.1:p.Glu553Gln | |
| XM_011540314.1:c.226G>C | XP_011538616.1:p.Glu76Gln | |
| XR_945857.1:n.1951G>C | ||
| XM_005270261.2:c.1558G>C | XP_005270318.1:p.Glu520Gln | |
| XM_006718047.2:c.1657G>C | XP_006718110.1:p.Glu553Gln | |
| XM_006718048.2:c.1654G>C | XP_006718111.1:p.Glu552Gln | |
| XM_006718049.2:c.1657G>C | XP_006718112.1:p.Glu553Gln | |
| XM_006718050.2:c.1657G>C | XP_006718113.1:p.Glu553Gln | |
| XM_011540312.2:c.1657G>C | XP_011538614.1:p.Glu553Gln | |
| XM_011540313.2:c.1657G>C | XP_011538615.1:p.Glu553Gln | |
| XM_011540314.2:c.226G>C | XP_011538616.1:p.Glu76Gln | |
| XM_017016861.2:c.1633G>C | XP_016872350.1:p.Glu545Gln | |
| XM_017016862.2:c.1657G>C | XP_016872351.1:p.Glu553Gln | |
| XM_017016863.2:c.1555G>C | XP_016872352.1:p.Glu519Gln | |
| XM_017016864.2:c.-910G>C | XP_016872353.1:n.-910G>C | |
| XR_001747252.2:n.1918G>C | ||
| XR_001747253.2:n.1918G>C | ||
| XR_001747254.2:n.1918G>C | ||
| NM_001199378.2:c.1558G>C | NP_001186307.1:p.Glu520Gln | |
| NM_001199379.2:c.1555G>C | NP_001186308.1:p.Glu519Gln | |
| NM_001377137.1:c.1558G>C MANE Select | NP_001364066.1:p.Glu520Gln | |
| NM_001377138.1:c.1555G>C | NP_001364067.1:p.Glu519Gln | |
| NM_001377139.1:c.1390-691G>C | NP_001364068.1:n.1390-691G>C | |
| NM_001377140.1:c.1390-691G>C | NP_001364069.1:n.1390-691G>C | |
| NM_001377141.1:c.1555G>C | NP_001364070.1:p.Glu519Gln | |
| NM_004193.3:c.1555G>C | NP_004184.1:p.Glu519Gln | |
| NR_165085.1:n.1649G>C | ||
| NR_165086.1:n.1815G>C | ||
| NR_165087.1:n.1754G>C | ||
| NR_165088.1:n.1649G>C | ||
| NR_165089.1:n.1603G>C | ||
| NM_001391922.1:c.1654G>C | NP_001378851.1:p.Glu552Gln | |
| NM_001391923.1:c.1558G>C | NP_001378852.1:p.Glu520Gln | |
| NM_001391924.1:c.1555G>C | NP_001378853.1:p.Glu519Gln | |
| NM_001391925.1:c.1555G>C | NP_001378854.1:p.Glu519Gln | |
| NM_001391926.1:c.1558G>C | NP_001378855.1:p.Glu520Gln | |
| NM_001391927.1:c.1555G>C | NP_001378856.1:p.Glu519Gln | |
| NM_001391928.1:c.1555G>C | NP_001378857.1:p.Glu519Gln | |
| NM_001391929.1:c.1555G>C | NP_001378858.1:p.Glu519Gln | |
| NM_001391930.1:c.1555G>C | NP_001378859.1:p.Glu519Gln | |
| NM_001391931.1:c.1177G>C | NP_001378860.1:p.Glu393Gln |