Linked Data
ClinVar Variation Id:
41534
ClinVar RCV Id:
RCV000034419
RCV000131637
RCV000168325
RCV000211931
RCV001151804
RCV001353490
RCV003743553
RCV003996165
dbSNP Id:
rs148878262
ExAC:
5:112178164 A / T
gnomAD v2:
5-112178164-A-T
gnomAD v3:
5-112842467-A-T
gnomAD v4:
5-112842467-A-T
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842467A>T , CM000667.2:g.112842467A>T | GRCh38 |
| NC_000005.9:g.112178164A>T , CM000667.1:g.112178164A>T | GRCh37 |
| NC_000005.8:g.112206063A>T | NCBI36 |
| NG_008481.4:g.154947A>T , LRG_130:g.154947A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6927A>T | ENSP00000473355.2:p.Gln2309His | |
| ENST00000505350.2:c.*6879A>T | ENSP00000481752.1:n.*6879A>T | |
| ENST00000507379.6:c.6819A>T | ENSP00000423224.2:p.Gln2273His | |
| ENST00000509732.6:c.6873A>T | ENSP00000426541.2:p.Gln2291His | |
| ENST00000512211.7:c.6873A>T | ENSP00000423828.3:p.Gln2291His | |
| ENST00000257430.9:c.6873A>T MANE Select | ENSP00000257430.4:p.Gln2291His | |
| ENST00000257430.8:c.6873A>T | ENSP00000257430.4:p.Gln2291His | |
| ENST00000508376.6:c.6873A>T | ENSP00000427089.2:p.Gln2291His | |
| ENST00000508624.5:c.*6195A>T | ENSP00000424265.1:n.*6195A>T | |
| ENST00000520401.1:c.230+13495A>T | ||
| NM_000038.5:c.6873A>T | NP_000029.2:p.Gln2291His | |
| NM_001127510.2:c.6873A>T | NP_001120982.1:p.Gln2291His | |
| NM_001127511.2:c.6819A>T | NP_001120983.2:p.Gln2273His | |
| NM_001354895.1:c.6873A>T | NP_001341824.1:p.Gln2291His | |
| NM_001354896.1:c.6927A>T | NP_001341825.1:p.Gln2309His | |
| NM_001354897.1:c.6903A>T | NP_001341826.1:p.Gln2301His | |
| NM_001354898.1:c.6798A>T | NP_001341827.1:p.Gln2266His | |
| NM_001354899.1:c.6789A>T | NP_001341828.1:p.Gln2263His | |
| NM_001354900.1:c.6750A>T | NP_001341829.1:p.Gln2250His | |
| NM_001354901.1:c.6696A>T | NP_001341830.1:p.Gln2232His | |
| NM_001354902.1:c.6600A>T | NP_001341831.1:p.Gln2200His | |
| NM_001354903.1:c.6570A>T | NP_001341832.1:p.Gln2190His | |
| NM_001354904.1:c.6495A>T | NP_001341833.1:p.Gln2165His | |
| NM_001354905.1:c.6393A>T | NP_001341834.1:p.Gln2131His | |
| NM_001354906.1:c.6024A>T | NP_001341835.1:p.Gln2008His | |
| NM_000038.6:c.6873A>T MANE Select | NP_000029.2:p.Gln2291His | |
| NM_001127510.3:c.6873A>T | NP_001120982.1:p.Gln2291His | |
| NM_001127511.3:c.6819A>T | NP_001120983.2:p.Gln2273His | |
| NM_001354895.2:c.6873A>T | NP_001341824.1:p.Gln2291His | |
| NM_001354896.2:c.6927A>T | NP_001341825.1:p.Gln2309His | |
| NM_001354897.2:c.6903A>T | NP_001341826.1:p.Gln2301His | |
| NM_001354898.2:c.6798A>T | NP_001341827.1:p.Gln2266His | |
| NM_001354899.2:c.6789A>T | NP_001341828.1:p.Gln2263His | |
| NM_001354900.2:c.6750A>T | NP_001341829.1:p.Gln2250His | |
| NM_001354901.2:c.6696A>T | NP_001341830.1:p.Gln2232His | |
| NM_001354902.2:c.6600A>T | NP_001341831.1:p.Gln2200His | |
| NM_001354903.2:c.6570A>T | NP_001341832.1:p.Gln2190His | |
| NM_001354904.2:c.6495A>T | NP_001341833.1:p.Gln2165His | |
| NM_001354905.2:c.6393A>T | NP_001341834.1:p.Gln2131His | |
| NM_001354906.2:c.6024A>T | NP_001341835.1:p.Gln2008His |