Linked Data
ClinVar Variation Id:
194611
dbSNP Id:
rs150628823
ExAC:
7:128034396 C / G
gnomAD v2:
7-128034396-C-G
gnomAD v3:
7-128394342-C-G
gnomAD v4:
7-128394342-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128394342C>G , CM000669.2:g.128394342C>G | GRCh38 |
| NC_000007.13:g.128034396C>G , CM000669.1:g.128034396C>G | GRCh37 |
| NC_000007.12:g.127821632C>G | NCBI36 |
| NG_009194.1:g.20641G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.1606G>C | ENSP00000265385.8:p.Glu536Gln | |
| ENST00000484496.6:n.1589G>C | ||
| ENST00000338791.11:c.1714G>C MANE Select | ENSP00000345096.6:p.Glu572Gln | |
| ENST00000648462.1:c.1346G>C | ||
| ENST00000338791.10:c.1714G>C | ENSP00000345096.6:p.Glu572Gln | |
| ENST00000348127.10:c.1606G>C | ENSP00000265385.8:p.Glu536Gln | |
| ENST00000354269.9:c.1684G>C | ENSP00000346219.5:p.Glu562Gln | |
| ENST00000419067.6:c.1615G>C | ENSP00000399400.2:p.Glu539Gln | |
| ENST00000460045.1:n.604G>C | ||
| ENST00000469328.5:c.1479G>C | ||
| ENST00000470772.5:c.1456G>C | ENSP00000417296.1:p.Glu486Gln | |
| ENST00000480861.5:c.1444G>C | ENSP00000420185.1:p.Glu482Gln | |
| ENST00000484496.5:c.1589G>C | ENSP00000418742.1:n.1589G>C | |
| ENST00000496200.5:c.1384G>C | ENSP00000420803.1:p.Glu462Gln | |
| ENST00000626419.2:c.1456G>C | ENSP00000486056.1:p.Glu486Gln | |
| NM_000883.3:c.1714G>C | NP_000874.2:p.Glu572Gln | |
| NM_001102605.1:c.1684G>C | NP_001096075.1:p.Glu562Gln | |
| NM_001142573.1:c.1459G>C | NP_001136045.1:p.Glu487Gln | |
| NM_001142574.1:c.1444G>C | NP_001136046.1:p.Glu482Gln | |
| NM_001142575.1:c.1384G>C | NP_001136047.1:p.Glu462Gln | |
| NM_001142576.1:c.1615G>C | NP_001136048.1:p.Glu539Gln | |
| NM_001304521.1:c.1507G>C | NP_001291450.1:p.Glu503Gln | |
| NM_183243.2:c.1606G>C | NP_899066.1:p.Glu536Gln | |
| XM_005250314.1:c.1483G>C | XP_005250371.1:p.Glu495Gln | |
| XM_006715967.1:c.1714G>C | XP_006716030.1:p.Glu572Gln | |
| XM_006715968.1:c.1684G>C | XP_006716031.1:p.Glu562Gln | |
| XM_006715969.1:c.1606G>C | XP_006716032.1:p.Glu536Gln | |
| XM_006715970.2:c.1507G>C | XP_006716033.1:p.Glu503Gln | |
| XM_006715971.1:c.1483G>C | XP_006716034.1:p.Glu495Gln | |
| XM_011516156.1:c.1096G>C | XP_011514458.1:p.Glu366Gln | |
| XM_011516157.1:c.1096G>C | XP_011514459.1:p.Glu366Gln | |
| XM_017012172.1:c.1483G>C | XP_016867661.1:p.Glu495Gln | |
| XM_024446755.1:c.1684G>C | XP_024302523.1:p.Glu562Gln | |
| XM_024446756.1:c.1606G>C | XP_024302524.1:p.Glu536Gln | |
| XM_024446757.1:c.1507G>C | XP_024302525.1:p.Glu503Gln | |
| XM_024446758.1:c.1483G>C | XP_024302526.1:p.Glu495Gln | |
| NM_000883.4:c.1714G>C MANE Select | NP_000874.2:p.Glu572Gln | |
| NM_001102605.2:c.1684G>C | NP_001096075.1:p.Glu562Gln | |
| NM_001142573.2:c.1459G>C | NP_001136045.1:p.Glu487Gln | |
| NM_001142574.2:c.1444G>C | NP_001136046.1:p.Glu482Gln | |
| NM_001142575.2:c.1384G>C | NP_001136047.1:p.Glu462Gln | |
| NM_001142576.2:c.1615G>C | NP_001136048.1:p.Glu539Gln | |
| NM_001304521.2:c.1507G>C | NP_001291450.1:p.Glu503Gln | |
| NM_183243.3:c.1606G>C | NP_899066.1:p.Glu536Gln |