Linked Data
ClinVar Variation Id:
184763
ClinVar RCV Id:
RCV000164075
RCV000226636
RCV000483633
RCV001582644
RCV003534437
RCV003937504
RCV003995310
dbSNP Id:
rs762034315
ExAC:
5:112178865 G / A
gnomAD v2:
5-112178865-G-A
gnomAD v3:
5-112843168-G-A
gnomAD v4:
5-112843168-G-A
PubMed:
PMID:25479140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843168G>A , CM000667.2:g.112843168G>A | GRCh38 |
| NC_000005.9:g.112178865G>A , CM000667.1:g.112178865G>A | GRCh37 |
| NC_000005.8:g.112206764G>A | NCBI36 |
| NG_008481.4:g.155648G>A , LRG_130:g.155648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7628G>A | ENSP00000473355.2:p.Arg2543His | |
| ENST00000505350.2:c.*7580G>A | ENSP00000481752.1:n.*7580G>A | |
| ENST00000507379.6:c.7520G>A | ENSP00000423224.2:p.Arg2507His | |
| ENST00000509732.6:c.7574G>A | ENSP00000426541.2:p.Arg2525His | |
| ENST00000512211.7:c.7574G>A | ENSP00000423828.3:p.Arg2525His | |
| ENST00000257430.9:c.7574G>A MANE Select | ENSP00000257430.4:p.Arg2525His | |
| ENST00000257430.8:c.7574G>A | ENSP00000257430.4:p.Arg2525His | |
| ENST00000508376.6:c.7574G>A | ENSP00000427089.2:p.Arg2525His | |
| ENST00000520401.1:c.231-13481G>A | ||
| NM_000038.5:c.7574G>A | NP_000029.2:p.Arg2525His | |
| NM_001127510.2:c.7574G>A | NP_001120982.1:p.Arg2525His | |
| NM_001127511.2:c.7520G>A | NP_001120983.2:p.Arg2507His | |
| NM_001354895.1:c.7574G>A | NP_001341824.1:p.Arg2525His | |
| NM_001354896.1:c.7628G>A | NP_001341825.1:p.Arg2543His | |
| NM_001354897.1:c.7604G>A | NP_001341826.1:p.Arg2535His | |
| NM_001354898.1:c.7499G>A | NP_001341827.1:p.Arg2500His | |
| NM_001354899.1:c.7490G>A | NP_001341828.1:p.Arg2497His | |
| NM_001354900.1:c.7451G>A | NP_001341829.1:p.Arg2484His | |
| NM_001354901.1:c.7397G>A | NP_001341830.1:p.Arg2466His | |
| NM_001354902.1:c.7301G>A | NP_001341831.1:p.Arg2434His | |
| NM_001354903.1:c.7271G>A | NP_001341832.1:p.Arg2424His | |
| NM_001354904.1:c.7196G>A | NP_001341833.1:p.Arg2399His | |
| NM_001354905.1:c.7094G>A | NP_001341834.1:p.Arg2365His | |
| NM_001354906.1:c.6725G>A | NP_001341835.1:p.Arg2242His | |
| NM_000038.6:c.7574G>A MANE Select | NP_000029.2:p.Arg2525His | |
| NM_001127510.3:c.7574G>A | NP_001120982.1:p.Arg2525His | |
| NM_001127511.3:c.7520G>A | NP_001120983.2:p.Arg2507His | |
| NM_001354895.2:c.7574G>A | NP_001341824.1:p.Arg2525His | |
| NM_001354896.2:c.7628G>A | NP_001341825.1:p.Arg2543His | |
| NM_001354897.2:c.7604G>A | NP_001341826.1:p.Arg2535His | |
| NM_001354898.2:c.7499G>A | NP_001341827.1:p.Arg2500His | |
| NM_001354899.2:c.7490G>A | NP_001341828.1:p.Arg2497His | |
| NM_001354900.2:c.7451G>A | NP_001341829.1:p.Arg2484His | |
| NM_001354901.2:c.7397G>A | NP_001341830.1:p.Arg2466His | |
| NM_001354902.2:c.7301G>A | NP_001341831.1:p.Arg2434His | |
| NM_001354903.2:c.7271G>A | NP_001341832.1:p.Arg2424His | |
| NM_001354904.2:c.7196G>A | NP_001341833.1:p.Arg2399His | |
| NM_001354905.2:c.7094G>A | NP_001341834.1:p.Arg2365His | |
| NM_001354906.2:c.6725G>A | NP_001341835.1:p.Arg2242His |