Linked Data
ClinVar Variation Id:
358879
dbSNP Id:
rs201071873
ExAC:
7:128040436 C / T
gnomAD v2:
7-128040436-C-T
gnomAD v3:
7-128400382-C-T
gnomAD v4:
7-128400382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128400382C>T , CM000669.2:g.128400382C>T | GRCh38 |
| NC_000007.13:g.128040436C>T , CM000669.1:g.128040436C>T | GRCh37 |
| NC_000007.12:g.127827672C>T | NCBI36 |
| NG_009194.1:g.14601G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348127.11:c.629G>A | ENSP00000265385.8:p.Arg210Gln | |
| ENST00000484496.6:n.590G>A | ||
| ENST00000338791.11:c.737G>A MANE Select | ENSP00000345096.6:p.Arg246Gln | |
| ENST00000648462.1:c.369G>A | ||
| ENST00000338791.10:c.737G>A | ENSP00000345096.6:p.Arg246Gln | |
| ENST00000348127.10:c.629G>A | ENSP00000265385.8:p.Arg210Gln | |
| ENST00000354269.9:c.707G>A | ENSP00000346219.5:p.Arg236Gln | |
| ENST00000419067.6:c.638G>A | ENSP00000399400.2:p.Arg213Gln | |
| ENST00000468842.1:n.304G>A | ||
| ENST00000469328.5:c.480G>A | ||
| ENST00000470772.5:c.479G>A | ENSP00000417296.1:p.Arg160Gln | |
| ENST00000480861.5:c.467G>A | ENSP00000420185.1:p.Arg156Gln | |
| ENST00000484496.5:c.590G>A | ENSP00000418742.1:p.Arg197Gln | |
| ENST00000489263.1:c.455G>A | ENSP00000418592.1:p.Arg152Gln | |
| ENST00000496200.5:c.407G>A | ENSP00000420803.1:p.Arg136Gln | |
| ENST00000497868.5:c.530G>A | ENSP00000419609.1:p.Arg177Gln | |
| ENST00000626419.2:c.479G>A | ENSP00000486056.1:p.Arg160Gln | |
| NM_000883.3:c.737G>A | NP_000874.2:p.Arg246Gln | |
| NM_001102605.1:c.707G>A | NP_001096075.1:p.Arg236Gln | |
| NM_001142573.1:c.482G>A | NP_001136045.1:p.Arg161Gln | |
| NM_001142574.1:c.467G>A | NP_001136046.1:p.Arg156Gln | |
| NM_001142575.1:c.407G>A | NP_001136047.1:p.Arg136Gln | |
| NM_001142576.1:c.638G>A | NP_001136048.1:p.Arg213Gln | |
| NM_001304521.1:c.530G>A | NP_001291450.1:p.Arg177Gln | |
| NM_183243.2:c.629G>A | NP_899066.1:p.Arg210Gln | |
| XM_005250314.1:c.506G>A | XP_005250371.1:p.Arg169Gln | |
| XM_006715967.1:c.737G>A | XP_006716030.1:p.Arg246Gln | |
| XM_006715968.1:c.707G>A | XP_006716031.1:p.Arg236Gln | |
| XM_006715969.1:c.629G>A | XP_006716032.1:p.Arg210Gln | |
| XM_006715970.2:c.530G>A | XP_006716033.1:p.Arg177Gln | |
| XM_006715971.1:c.506G>A | XP_006716034.1:p.Arg169Gln | |
| XM_011516156.1:c.97G>A | XP_011514458.1:p.Glu33Lys | |
| XM_011516157.1:c.97G>A | XP_011514459.1:p.Glu33Lys | |
| XM_017012172.1:c.506G>A | XP_016867661.1:p.Arg169Gln | |
| XM_017012173.1:c.707G>A | XP_016867662.1:p.Arg236Gln | |
| XM_024446755.1:c.707G>A | XP_024302523.1:p.Arg236Gln | |
| XM_024446756.1:c.629G>A | XP_024302524.1:p.Arg210Gln | |
| XM_024446757.1:c.530G>A | XP_024302525.1:p.Arg177Gln | |
| XM_024446758.1:c.506G>A | XP_024302526.1:p.Arg169Gln | |
| NM_000883.4:c.737G>A MANE Select | NP_000874.2:p.Arg246Gln | |
| NM_001102605.2:c.707G>A | NP_001096075.1:p.Arg236Gln | |
| NM_001142573.2:c.482G>A | NP_001136045.1:p.Arg161Gln | |
| NM_001142574.2:c.467G>A | NP_001136046.1:p.Arg156Gln | |
| NM_001142575.2:c.407G>A | NP_001136047.1:p.Arg136Gln | |
| NM_001142576.2:c.638G>A | NP_001136048.1:p.Arg213Gln | |
| NM_001304521.2:c.530G>A | NP_001291450.1:p.Arg177Gln | |
| NM_183243.3:c.629G>A | NP_899066.1:p.Arg210Gln |