Linked Data
ClinVar Variation Id:
232540
ClinVar RCV Id:
RCV000217896
RCV000232950
RCV000236039
RCV000657005
RCV003316225
RCV003650497
RCV003997981
dbSNP Id:
rs777538550
ExAC:
5:112174452 A / C
gnomAD v2:
5-112174452-A-C
gnomAD v3:
5-112838755-A-C
gnomAD v4:
5-112838755-A-C
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838755A>C , CM000667.2:g.112838755A>C | GRCh38 |
| NC_000005.9:g.112174452A>C , CM000667.1:g.112174452A>C | GRCh37 |
| NC_000005.8:g.112202351A>C | NCBI36 |
| NG_008481.4:g.151235A>C , LRG_130:g.151235A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2826A>C | ENSP00000484935.2:n.2826A>C | |
| ENST00000504915.3:c.3215A>C | ENSP00000473355.2:p.His1072Pro | |
| ENST00000505350.2:c.*3167A>C | ENSP00000481752.1:n.*3167A>C | |
| ENST00000507379.6:c.3107A>C | ENSP00000423224.2:p.His1036Pro | |
| ENST00000509732.6:c.3161A>C | ENSP00000426541.2:p.His1054Pro | |
| ENST00000512211.7:c.3161A>C | ENSP00000423828.3:p.His1054Pro | |
| ENST00000257430.9:c.3161A>C MANE Select | ENSP00000257430.4:p.His1054Pro | |
| ENST00000257430.8:c.3161A>C | ENSP00000257430.4:p.His1054Pro | |
| ENST00000502371.2:c.1514A>C | ||
| ENST00000507379.5:c.3107A>C | ENSP00000423224.1:p.His1036Pro | |
| ENST00000508376.6:c.3161A>C | ENSP00000427089.2:p.His1054Pro | |
| ENST00000508624.5:c.*2483A>C | ENSP00000424265.1:n.*2483A>C | |
| ENST00000512211.6:c.3161A>C | ENSP00000423828.2:p.His1054Pro | |
| ENST00000520401.1:c.230+9783A>C | ||
| NM_000038.5:c.3161A>C | NP_000029.2:p.His1054Pro | |
| NM_001127510.2:c.3161A>C | NP_001120982.1:p.His1054Pro | |
| NM_001127511.2:c.3107A>C | NP_001120983.2:p.His1036Pro | |
| NM_001354895.1:c.3161A>C | NP_001341824.1:p.His1054Pro | |
| NM_001354896.1:c.3215A>C | NP_001341825.1:p.His1072Pro | |
| NM_001354897.1:c.3191A>C | NP_001341826.1:p.His1064Pro | |
| NM_001354898.1:c.3086A>C | NP_001341827.1:p.His1029Pro | |
| NM_001354899.1:c.3077A>C | NP_001341828.1:p.His1026Pro | |
| NM_001354900.1:c.3038A>C | NP_001341829.1:p.His1013Pro | |
| NM_001354901.1:c.2984A>C | NP_001341830.1:p.His995Pro | |
| NM_001354902.1:c.2888A>C | NP_001341831.1:p.His963Pro | |
| NM_001354903.1:c.2858A>C | NP_001341832.1:p.His953Pro | |
| NM_001354904.1:c.2783A>C | NP_001341833.1:p.His928Pro | |
| NM_001354905.1:c.2681A>C | NP_001341834.1:p.His894Pro | |
| NM_001354906.1:c.2312A>C | NP_001341835.1:p.His771Pro | |
| NM_000038.6:c.3161A>C MANE Select | NP_000029.2:p.His1054Pro | |
| NM_001127510.3:c.3161A>C | NP_001120982.1:p.His1054Pro | |
| NM_001127511.3:c.3107A>C | NP_001120983.2:p.His1036Pro | |
| NM_001354895.2:c.3161A>C | NP_001341824.1:p.His1054Pro | |
| NM_001354896.2:c.3215A>C | NP_001341825.1:p.His1072Pro | |
| NM_001354897.2:c.3191A>C | NP_001341826.1:p.His1064Pro | |
| NM_001354898.2:c.3086A>C | NP_001341827.1:p.His1029Pro | |
| NM_001354899.2:c.3077A>C | NP_001341828.1:p.His1026Pro | |
| NM_001354900.2:c.3038A>C | NP_001341829.1:p.His1013Pro | |
| NM_001354901.2:c.2984A>C | NP_001341830.1:p.His995Pro | |
| NM_001354902.2:c.2888A>C | NP_001341831.1:p.His963Pro | |
| NM_001354903.2:c.2858A>C | NP_001341832.1:p.His953Pro | |
| NM_001354904.2:c.2783A>C | NP_001341833.1:p.His928Pro | |
| NM_001354905.2:c.2681A>C | NP_001341834.1:p.His894Pro | |
| NM_001354906.2:c.2312A>C | NP_001341835.1:p.His771Pro |