Linked Data
ClinVar Variation Id:
183919
ClinVar RCV Id:
RCV000162793
RCV000199939
RCV000429527
RCV000587002
RCV001155353
RCV001353912
RCV003743604
dbSNP Id:
rs141001261
ExAC:
5:112173496 G / A
gnomAD v2:
5-112173496-G-A
gnomAD v3:
5-112837799-G-A
gnomAD v4:
5-112837799-G-A
PubMed:
PMID:23159591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837799G>A , CM000667.2:g.112837799G>A | GRCh38 |
| NC_000005.9:g.112173496G>A , CM000667.1:g.112173496G>A | GRCh37 |
| NC_000005.8:g.112201395G>A | NCBI36 |
| NG_008481.4:g.150279G>A , LRG_130:g.150279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1870G>A | ENSP00000484935.2:n.1870G>A | |
| ENST00000504915.3:c.2259G>A | ENSP00000473355.2:p.Ala753= | |
| ENST00000505350.2:c.*2211G>A | ENSP00000481752.1:n.*2211G>A | |
| ENST00000507379.6:c.2151G>A | ENSP00000423224.2:p.Ala717= | |
| ENST00000509732.6:c.2205G>A | ENSP00000426541.2:p.Ala735= | |
| ENST00000512211.7:c.2205G>A | ENSP00000423828.3:p.Ala735= | |
| ENST00000257430.9:c.2205G>A MANE Select | ENSP00000257430.4:p.Ala735= | |
| ENST00000257430.8:c.2205G>A | ENSP00000257430.4:p.Ala735= | |
| ENST00000502371.2:c.558G>A | ||
| ENST00000507379.5:c.2151G>A | ENSP00000423224.1:p.Ala717= | |
| ENST00000508376.6:c.2205G>A | ENSP00000427089.2:p.Ala735= | |
| ENST00000508624.5:c.*1527G>A | ENSP00000424265.1:n.*1527G>A | |
| ENST00000512211.6:c.2205G>A | ENSP00000423828.2:p.Ala735= | |
| ENST00000520401.1:c.230+8827G>A | ||
| NM_000038.5:c.2205G>A | NP_000029.2:p.Ala735= | |
| NM_001127510.2:c.2205G>A | NP_001120982.1:p.Ala735= | |
| NM_001127511.2:c.2151G>A | NP_001120983.2:p.Ala717= | |
| NM_001354895.1:c.2205G>A | NP_001341824.1:p.Ala735= | |
| NM_001354896.1:c.2259G>A | NP_001341825.1:p.Ala753= | |
| NM_001354897.1:c.2235G>A | NP_001341826.1:p.Ala745= | |
| NM_001354898.1:c.2130G>A | NP_001341827.1:p.Ala710= | |
| NM_001354899.1:c.2121G>A | NP_001341828.1:p.Ala707= | |
| NM_001354900.1:c.2082G>A | NP_001341829.1:p.Ala694= | |
| NM_001354901.1:c.2028G>A | NP_001341830.1:p.Ala676= | |
| NM_001354902.1:c.1932G>A | NP_001341831.1:p.Ala644= | |
| NM_001354903.1:c.1902G>A | NP_001341832.1:p.Ala634= | |
| NM_001354904.1:c.1827G>A | NP_001341833.1:p.Ala609= | |
| NM_001354905.1:c.1725G>A | NP_001341834.1:p.Ala575= | |
| NM_001354906.1:c.1356G>A | NP_001341835.1:p.Ala452= | |
| NM_000038.6:c.2205G>A MANE Select | NP_000029.2:p.Ala735= | |
| NM_001127510.3:c.2205G>A | NP_001120982.1:p.Ala735= | |
| NM_001127511.3:c.2151G>A | NP_001120983.2:p.Ala717= | |
| NM_001354895.2:c.2205G>A | NP_001341824.1:p.Ala735= | |
| NM_001354896.2:c.2259G>A | NP_001341825.1:p.Ala753= | |
| NM_001354897.2:c.2235G>A | NP_001341826.1:p.Ala745= | |
| NM_001354898.2:c.2130G>A | NP_001341827.1:p.Ala710= | |
| NM_001354899.2:c.2121G>A | NP_001341828.1:p.Ala707= | |
| NM_001354900.2:c.2082G>A | NP_001341829.1:p.Ala694= | |
| NM_001354901.2:c.2028G>A | NP_001341830.1:p.Ala676= | |
| NM_001354902.2:c.1932G>A | NP_001341831.1:p.Ala644= | |
| NM_001354903.2:c.1902G>A | NP_001341832.1:p.Ala634= | |
| NM_001354904.2:c.1827G>A | NP_001341833.1:p.Ala609= | |
| NM_001354905.2:c.1725G>A | NP_001341834.1:p.Ala575= | |
| NM_001354906.2:c.1356G>A | NP_001341835.1:p.Ala452= |