Linked Data
ClinVar Variation Id:
375337
dbSNP Id:
rs1057519347
gnomAD v2:
19-41198145-C-T
gnomAD v4:
19-40692240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692240C>T , CM000681.2:g.40692240C>T | GRCh38 |
| NC_000019.9:g.41198145C>T , CM000681.1:g.41198145C>T | GRCh37 |
| NC_000019.8:g.45889985C>T | NCBI36 |
| NG_027800.1:g.29646G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.1430G>A MANE Select | ENSP00000315118.3:p.Arg477Gln | |
| ENST00000593724.2:n.3253G>A | ||
| ENST00000594490.6:c.1352G>A | ENSP00000471310.2:p.Arg451Gln | |
| ENST00000594720.6:c.1430G>A | ENSP00000470876.2:p.Arg477Gln | |
| ENST00000596455.6:n.1722G>A | ||
| ENST00000601967.6:c.1430G>A | ENSP00000470916.2:p.Arg477Gln | |
| ENST00000676555.1:c.*855G>A | ENSP00000503387.1:n.*855G>A | |
| ENST00000676578.1:c.*1172G>A | ENSP00000504076.1:n.*1172G>A | |
| ENST00000676960.1:n.1555G>A | ||
| ENST00000676962.1:n.1709G>A | ||
| ENST00000677018.1:c.1430G>A | ENSP00000503480.1:p.Arg477Gln | |
| ENST00000677039.1:n.3633G>A | ||
| ENST00000677399.1:n.1872G>A | ||
| ENST00000677496.1:c.1103G>A | ENSP00000504773.1:p.Arg368Gln | |
| ENST00000677517.1:c.1103G>A | ENSP00000503519.1:p.Arg368Gln | |
| ENST00000677633.1:c.*853G>A | ENSP00000503645.1:n.*853G>A | |
| ENST00000677800.1:c.*4534G>A | ENSP00000503794.1:n.*4534G>A | |
| ENST00000678057.1:c.*994G>A | ENSP00000503762.1:n.*994G>A | |
| ENST00000678119.1:n.1624G>A | ||
| ENST00000678166.1:n.1573G>A | ||
| ENST00000678312.1:n.1767G>A | ||
| ENST00000678316.1:c.*853G>A | ENSP00000504112.1:n.*853G>A | |
| ENST00000678371.1:n.1880G>A | ||
| ENST00000678404.1:c.1430G>A | ENSP00000503944.1:p.Arg477Gln | |
| ENST00000678419.1:c.1430G>A | ENSP00000504085.1:p.Arg477Gln | |
| ENST00000678433.1:n.1786G>A | ||
| ENST00000678467.1:c.1430G>A | ENSP00000504072.1:p.Arg477Gln | |
| ENST00000678569.1:c.*415G>A | ENSP00000504261.1:n.*415G>A | |
| ENST00000678961.1:n.1785G>A | ||
| ENST00000679002.1:n.1609G>A | ||
| ENST00000679012.1:c.986G>A | ENSP00000504446.1:p.Arg329Gln | |
| ENST00000679070.1:c.*849G>A | ENSP00000503759.1:n.*849G>A | |
| ENST00000679130.1:c.1430G>A | ENSP00000504845.1:p.Arg477Gln | |
| ENST00000679315.1:c.*1260G>A | ENSP00000503065.1:n.*1260G>A | |
| ENST00000243583.10:c.1307G>A | ENSP00000243583.5:p.Arg436Gln | |
| ENST00000324464.7:c.1430G>A | ENSP00000315118.3:p.Arg477Gln | |
| ENST00000593724.1:n.1545G>A | ||
| NM_001142555.2:c.1307G>A | NP_001136027.1:p.Arg436Gln | |
| NM_024876.3:c.1430G>A | NP_079152.3:p.Arg477Gln | |
| XM_005259270.3:c.1592G>A | XP_005259327.2:p.Arg531Gln | |
| XM_005259271.3:c.1430G>A | XP_005259328.1:p.Arg477Gln | |
| XM_005259272.3:c.1430G>A | XP_005259329.1:p.Arg477Gln | |
| XM_005259273.3:c.1430G>A | XP_005259330.1:p.Arg477Gln | |
| XM_006723392.2:c.1430G>A | XP_006723455.1:p.Arg477Gln | |
| XM_006723393.2:c.1430G>A | XP_006723456.1:p.Arg477Gln | |
| XM_011527334.1:c.1430G>A | XP_011525636.1:p.Arg477Gln | |
| XM_011527335.1:c.1289G>A | XP_011525637.1:p.Arg430Gln | |
| XM_011527336.1:c.1460G>A | XP_011525638.1:p.Arg487Gln | |
| XM_011527337.1:c.1430G>A | XP_011525639.1:p.Arg477Gln | |
| XM_011527338.1:c.1430G>A | XP_011525640.1:p.Arg477Gln | |
| NM_024876.4:c.1430G>A MANE Select | NP_079152.3:p.Arg477Gln | |
| NM_001142555.3:c.1307G>A | NP_001136027.1:p.Arg436Gln |