Linked Data
dbSNP Id:
rs749674752
ExAC:
19:41206291 C / T
gnomAD v2:
19-41206291-C-T
gnomAD v4:
19-40700386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40700386C>T , CM000681.2:g.40700386C>T | GRCh38 |
| NC_000019.9:g.41206291C>T , CM000681.1:g.41206291C>T | GRCh37 |
| NC_000019.8:g.45898131C>T | NCBI36 |
| NG_027800.1:g.21500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.959G>A MANE Select | ENSP00000315118.3:p.Arg320Gln | |
| ENST00000593724.2:n.2782G>A | ||
| ENST00000594490.6:c.881G>A | ENSP00000471310.2:p.Arg294Gln | |
| ENST00000594720.6:c.959G>A | ENSP00000470876.2:p.Arg320Gln | |
| ENST00000596455.6:n.1251G>A | ||
| ENST00000601967.6:c.959G>A | ENSP00000470916.2:p.Arg320Gln | |
| ENST00000676555.1:c.959G>A | ENSP00000503387.1:p.Arg320Gln | |
| ENST00000676578.1:c.*701G>A | ENSP00000504076.1:n.*701G>A | |
| ENST00000676960.1:n.1084G>A | ||
| ENST00000676962.1:n.1238G>A | ||
| ENST00000677018.1:c.959G>A | ENSP00000503480.1:p.Arg320Gln | |
| ENST00000677039.1:n.3162G>A | ||
| ENST00000677399.1:n.1401G>A | ||
| ENST00000677496.1:c.632G>A | ENSP00000504773.1:p.Arg211Gln | |
| ENST00000677517.1:c.632G>A | ENSP00000503519.1:p.Arg211Gln | |
| ENST00000677633.1:c.*382G>A | ENSP00000503645.1:n.*382G>A | |
| ENST00000677800.1:c.*4063G>A | ENSP00000503794.1:n.*4063G>A | |
| ENST00000678057.1:c.*523G>A | ENSP00000503762.1:n.*523G>A | |
| ENST00000678119.1:n.1153G>A | ||
| ENST00000678166.1:n.1102G>A | ||
| ENST00000678312.1:n.1296G>A | ||
| ENST00000678316.1:c.*382G>A | ENSP00000504112.1:n.*382G>A | |
| ENST00000678371.1:n.1409G>A | ||
| ENST00000678404.1:c.959G>A | ENSP00000503944.1:p.Arg320Gln | |
| ENST00000678419.1:c.959G>A | ENSP00000504085.1:p.Arg320Gln | |
| ENST00000678433.1:n.1315G>A | ||
| ENST00000678467.1:c.959G>A | ENSP00000504072.1:p.Arg320Gln | |
| ENST00000678569.1:c.955G>A | ENSP00000504261.1:p.Gly319Arg | |
| ENST00000678961.1:n.1314G>A | ||
| ENST00000679002.1:n.1138G>A | ||
| ENST00000679012.1:c.515G>A | ENSP00000504446.1:p.Arg172Gln | |
| ENST00000679070.1:c.*378G>A | ENSP00000503759.1:n.*378G>A | |
| ENST00000679130.1:c.959G>A | ENSP00000504845.1:p.Arg320Gln | |
| ENST00000679315.1:c.*789G>A | ENSP00000503065.1:n.*789G>A | |
| ENST00000243583.10:c.836G>A | ENSP00000243583.5:p.Arg279Gln | |
| ENST00000324464.7:c.959G>A | ENSP00000315118.3:p.Arg320Gln | |
| ENST00000593724.1:n.1074G>A | ||
| NM_001142555.2:c.836G>A | NP_001136027.1:p.Arg279Gln | |
| NM_024876.3:c.959G>A | NP_079152.3:p.Arg320Gln | |
| XM_005259270.3:c.1121G>A | XP_005259327.2:p.Arg374Gln | |
| XM_005259271.3:c.959G>A | XP_005259328.1:p.Arg320Gln | |
| XM_005259272.3:c.959G>A | XP_005259329.1:p.Arg320Gln | |
| XM_005259273.3:c.959G>A | XP_005259330.1:p.Arg320Gln | |
| XM_006723392.2:c.959G>A | XP_006723455.1:p.Arg320Gln | |
| XM_006723393.2:c.959G>A | XP_006723456.1:p.Arg320Gln | |
| XM_011527334.1:c.959G>A | XP_011525636.1:p.Arg320Gln | |
| XM_011527335.1:c.818G>A | XP_011525637.1:p.Arg273Gln | |
| XM_011527336.1:c.989G>A | XP_011525638.1:p.Arg330Gln | |
| XM_011527337.1:c.959G>A | XP_011525639.1:p.Arg320Gln | |
| XM_011527338.1:c.959G>A | XP_011525640.1:p.Arg320Gln | |
| NM_024876.4:c.959G>A MANE Select | NP_079152.3:p.Arg320Gln | |
| NM_001142555.3:c.836G>A | NP_001136027.1:p.Arg279Gln |