Linked Data
dbSNP Id:
rs10014145
gnomAD v2:
4-103200577-A-G
gnomAD v3:
4-102279420-A-G
gnomAD v4:
4-102279420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102279420A>G , CM000666.2:g.102279420A>G | GRCh38 |
| NC_000004.11:g.103200577A>G , CM000666.1:g.103200577A>G | GRCh37 |
| NC_000004.10:g.103419600A>G | NCBI36 |
| NG_047177.1:g.71079T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424970.7:c.865+6529T>C | ENSP00000394548.3:n.865+6529T>C | |
| ENST00000682227.1:c.841-11341T>C | ENSP00000508363.1:n.841-11341T>C | |
| ENST00000682243.1:c.*986+6529T>C | ENSP00000507952.1:n.*986+6529T>C | |
| ENST00000682549.1:c.865+6529T>C | ENSP00000507483.1:n.865+6529T>C | |
| ENST00000682932.1:c.841-11341T>C | ENSP00000507414.1:n.841-11341T>C | |
| ENST00000683173.1:c.*962-11341T>C | ENSP00000508032.1:n.*962-11341T>C | |
| ENST00000683221.1:c.841-11341T>C | ENSP00000508093.1:n.841-11341T>C | |
| ENST00000683401.1:n.774-11341T>C | ||
| ENST00000683412.1:c.841-11341T>C | ENSP00000507538.1:n.841-11341T>C | |
| ENST00000683462.1:c.865+6529T>C | ENSP00000507170.1:n.865+6529T>C | |
| ENST00000683634.1:c.*962-11341T>C | ENSP00000507087.1:n.*962-11341T>C | |
| ENST00000683706.1:c.244+6529T>C | ENSP00000506745.1:n.244+6529T>C | |
| ENST00000683916.1:c.865+6529T>C | ENSP00000508106.1:n.865+6529T>C | |
| ENST00000684289.1:c.*516-11341T>C | ENSP00000506748.1:n.*516-11341T>C | |
| ENST00000684386.1:c.*54+2052T>C | ENSP00000507611.1:n.*54+2052T>C | |
| ENST00000356736.5:c.841-11341T>C MANE Select | ENSP00000349174.4:n.841-11341T>C | |
| ENST00000356736.4:c.841-11341T>C | ENSP00000349174.4:n.841-11341T>C | |
| ENST00000394833.6:c.841-11341T>C | ENSP00000378310.2:n.841-11341T>C | |
| ENST00000424970.6:c.841-11341T>C | ENSP00000394548.2:n.841-11341T>C | |
| ENST00000512337.1:n.173-9626T>C | ||
| NM_001135146.1:c.841-11341T>C | NP_001128618.1:n.841-11341T>C | |
| NM_001135147.1:c.841-11341T>C | NP_001128619.1:n.841-11341T>C | |
| NM_001135148.1:c.640-11341T>C | NP_001128620.1:n.640-11341T>C | |
| NM_022154.5:c.841-11341T>C | NP_071437.3:n.841-11341T>C | |
| XM_005263177.1:c.841-11341T>C | XP_005263234.1:n.841-11341T>C | |
| XM_011532182.1:c.199-11341T>C | XP_011530484.1:n.199-11341T>C | |
| XM_005263177.2:c.841-11341T>C | XP_005263234.1:n.841-11341T>C | |
| XM_017008541.1:c.640-11341T>C | XP_016864030.1:n.640-11341T>C | |
| XM_024454184.1:c.841-11341T>C | XP_024309952.1:n.841-11341T>C | |
| NM_001135146.2:c.841-11341T>C MANE Select | NP_001128618.1:n.841-11341T>C | |
| NM_001135148.2:c.640-11341T>C | NP_001128620.1:n.640-11341T>C |