Linked Data
ClinVar Variation Id:
2850420
ClinVar RCV Id:
RCV003608270
dbSNP Id:
rs771827859
ExAC:
16:23614903 C / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603582C>A , CM000678.2:g.23603582C>A | GRCh38 |
| NC_000016.9:g.23614903C>A , CM000678.1:g.23614903C>A | GRCh37 |
| NC_000016.8:g.23522404C>A | NCBI36 |
| NG_007406.1:g.42776G>T , LRG_308:g.42776G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3444G>T | ENSP00000460666.3:p.Gln1148His | |
| ENST00000565038.2:c.*923G>T | ENSP00000459882.2:n.*923G>T | |
| ENST00000566069.6:c.*73G>T | ENSP00000459237.2:n.*73G>T | |
| ENST00000697377.2:c.3282G>T | ENSP00000513286.2:p.Gln1094His | |
| ENST00000697379.2:c.3444G>T | ENSP00000513287.2:p.Gln1148His | |
| ENST00000561514.2:c.2553G>T | ENSP00000460666.2:p.Gln851His | |
| ENST00000697374.1:c.2553G>T | ENSP00000513284.1:p.Gln851His | |
| ENST00000697375.1:n.4785G>T | ||
| ENST00000697376.1:c.*73G>T | ENSP00000513285.1:n.*73G>T | |
| ENST00000697377.1:c.2391G>T | ENSP00000513286.1:p.Gln797His | |
| ENST00000697378.1:n.3958G>T | ||
| ENST00000697379.1:c.2553G>T | ENSP00000513287.1:p.Gln851His | |
| ENST00000697380.1:n.2642G>T | ||
| ENST00000697381.1:n.2133G>T | ||
| ENST00000697382.1:c.*215G>T | ENSP00000513288.1:n.*215G>T | |
| ENST00000697383.1:c.972G>T | ENSP00000513289.1:p.Gln324His | |
| ENST00000261584.9:c.3438G>T MANE Select | ENSP00000261584.4:p.Gln1146His | |
| ENST00000261584.8:c.3438G>T | ENSP00000261584.4:p.Gln1146His | |
| ENST00000566069.5:c.204G>T | ||
| ENST00000568219.5:c.2553G>T | ENSP00000454703.2:p.Gln851His | |
| NM_024675.3:c.3438G>T , LRG_308t1:c.3438G>T | NP_078951.2:p.Gln1146His | |
| XM_011545946.1:c.3444G>T | XP_011544248.1:p.Gln1148His | |
| XM_011545947.1:c.*73G>T | XP_011544249.1:n.*73G>T | |
| XM_011545948.1:c.2553G>T | XP_011544250.1:p.Gln851His | |
| XR_950851.1:n.4146G>T | ||
| XM_011545946.2:c.3444G>T | XP_011544248.1:p.Gln1148His | |
| XM_011545947.2:c.*73G>T | XP_011544249.1:n.*73G>T | |
| XM_011545948.2:c.2553G>T | XP_011544250.1:p.Gln851His | |
| XM_017023671.1:c.3207G>T | XP_016879160.1:p.Gln1069His | |
| XM_017023672.2:c.3201G>T | XP_016879161.1:p.Gln1067His | |
| XM_017023673.2:c.*73G>T | XP_016879162.1:n.*73G>T | |
| NM_024675.4:c.3438G>T MANE Select | NP_078951.2:p.Gln1146His |