Linked Data
ClinVar Variation Id:
2913769
ClinVar RCV Id:
RCV003620394
dbSNP Id:
rs187977939
ExAC:
2:127806111 C / T
gnomAD v2:
2-127806111-C-T
gnomAD v3:
2-127048535-C-T
gnomAD v4:
2-127048535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127048535C>T , CM000664.2:g.127048535C>T | GRCh38 |
| NC_000002.11:g.127806111C>T , CM000664.1:g.127806111C>T | GRCh37 |
| NC_000002.10:g.127522581C>T | NCBI36 |
| NG_012042.1:g.63754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352848.8:c.1356G>A | ENSP00000315284.4:p.Arg452= | |
| ENST00000316724.10:c.1773G>A MANE Select | ENSP00000316779.5:p.Arg591= | |
| ENST00000259238.8:c.1485G>A | ENSP00000259238.4:p.Arg495= | |
| ENST00000316724.9:c.1773G>A | ENSP00000316779.5:p.Arg591= | |
| ENST00000346226.7:c.1548G>A | ENSP00000315411.3:p.Arg516= | |
| ENST00000348750.8:c.1221G>A | ENSP00000259237.5:p.Arg407= | |
| ENST00000351659.7:c.1512G>A | ENSP00000315388.3:p.Arg504= | |
| ENST00000352848.7:c.1356G>A | ENSP00000315284.4:p.Arg452= | |
| ENST00000357970.7:c.1644G>A | ENSP00000350654.3:p.Arg548= | |
| ENST00000376113.6:c.1266G>A | ENSP00000365281.2:p.Arg422= | |
| ENST00000393040.7:c.1440G>A | ENSP00000376760.3:p.Arg480= | |
| ENST00000393041.7:c.1419G>A | ENSP00000376761.3:p.Arg473= | |
| ENST00000409400.1:c.1311G>A | ENSP00000386797.1:p.Arg437= | |
| ENST00000462958.5:n.4639G>A | ||
| NM_004305.3:c.1356G>A | NP_004296.1:p.Arg452= | |
| NM_139343.2:c.1773G>A | NP_647593.1:p.Arg591= | |
| NM_139344.2:c.1644G>A | NP_647594.1:p.Arg548= | |
| NM_139345.2:c.1512G>A | NP_647595.1:p.Arg504= | |
| NM_139346.2:c.1485G>A | NP_647596.1:p.Arg495= | |
| NM_139347.2:c.1548G>A | NP_647597.1:p.Arg516= | |
| NM_139348.2:c.1440G>A | NP_647598.1:p.Arg480= | |
| NM_139349.2:c.1419G>A | NP_647599.1:p.Arg473= | |
| NM_139350.2:c.1311G>A | NP_647600.1:p.Arg437= | |
| NM_139351.2:c.1221G>A | NP_647601.1:p.Arg407= | |
| XM_005263642.2:c.1818G>A | XP_005263699.1:p.Arg606= | |
| XM_005263643.2:c.1725G>A | XP_005263700.1:p.Arg575= | |
| XM_005263644.2:c.1680G>A | XP_005263701.1:p.Arg560= | |
| XM_005263645.1:c.1653G>A | XP_005263702.1:p.Arg551= | |
| XM_005263646.2:c.1404G>A | XP_005263703.1:p.Arg468= | |
| XM_005263647.2:c.1266G>A | XP_005263704.1:p.Arg422= | |
| XM_005263648.1:c.1149G>A | XP_005263705.1:p.Arg383= | |
| XM_006712425.2:c.1686G>A | XP_006712488.1:p.Arg562= | |
| XM_006712426.2:c.1686G>A | XP_006712489.1:p.Arg562= | |
| XM_006712427.1:c.1608G>A | XP_006712490.1:p.Arg536= | |
| XM_006712428.2:c.1578G>A | XP_006712491.1:p.Arg526= | |
| XM_006712429.2:c.1557G>A | XP_006712492.1:p.Arg519= | |
| XM_006712430.2:c.1533G>A | XP_006712493.1:p.Arg511= | |
| XM_006712431.2:c.1488G>A | XP_006712494.1:p.Arg496= | |
| XM_006712432.2:c.1449G>A | XP_006712495.1:p.Arg483= | |
| XM_006712433.2:c.1359G>A | XP_006712496.1:p.Arg453= | |
| XM_006712434.2:c.1314G>A | XP_006712497.1:p.Arg438= | |
| XM_011510975.1:c.1737G>A | XP_011509277.1:p.Arg579= | |
| NM_001320632.1:c.1266G>A | NP_001307561.1:p.Arg422= | |
| NM_001320633.1:c.1404G>A | NP_001307562.1:p.Arg468= | |
| NM_001320634.1:c.1149G>A | NP_001307563.1:p.Arg383= | |
| NM_001320640.1:c.1533G>A | NP_001307569.1:p.Arg511= | |
| NM_001320641.1:c.1680G>A | NP_001307570.1:p.Arg560= | |
| NM_001320642.1:c.1692G>A | NP_001307571.1:p.Arg564= | |
| XM_005263642.4:c.1818G>A | XP_005263699.1:p.Arg606= | |
| XM_005263643.4:c.1725G>A | XP_005263700.1:p.Arg575= | |
| XM_005263645.2:c.1653G>A | XP_005263702.1:p.Arg551= | |
| XM_006712425.4:c.1686G>A | XP_006712488.1:p.Arg562= | |
| XM_006712426.4:c.1686G>A | XP_006712489.1:p.Arg562= | |
| XM_006712427.2:c.1608G>A | XP_006712490.1:p.Arg536= | |
| XM_006712428.4:c.1578G>A | XP_006712491.1:p.Arg526= | |
| XM_006712429.4:c.1557G>A | XP_006712492.1:p.Arg519= | |
| XM_006712431.4:c.1488G>A | XP_006712494.1:p.Arg496= | |
| XM_006712432.4:c.1449G>A | XP_006712495.1:p.Arg483= | |
| XM_006712433.4:c.1359G>A | XP_006712496.1:p.Arg453= | |
| XM_006712434.4:c.1314G>A | XP_006712497.1:p.Arg438= | |
| XM_011510975.3:c.1737G>A | XP_011509277.1:p.Arg579= | |
| XM_017003819.1:c.1746G>A | XP_016859308.1:p.Arg582= | |
| XM_017003820.2:c.1548G>A | XP_016859309.1:p.Arg516= | |
| XM_017003821.2:c.1443G>A | XP_016859310.1:p.Arg481= | |
| XM_017003822.2:c.1350G>A | XP_016859311.1:p.Arg450= | |
| XM_017003823.1:c.1347G>A | XP_016859312.1:p.Arg449= | |
| XM_017003824.1:c.1278G>A | XP_016859313.1:p.Arg426= | |
| XM_017003825.1:c.1242G>A | XP_016859314.1:p.Arg414= | |
| XM_017003826.1:c.1239G>A | XP_016859315.1:p.Arg413= | |
| XM_017003827.2:c.1146G>A | XP_016859316.1:p.Arg382= | |
| XM_017003828.2:c.1101G>A | XP_016859317.1:p.Arg367= | |
| NM_139343.3:c.1773G>A MANE Select | NP_647593.1:p.Arg591= | |
| NM_001320632.2:c.1266G>A | NP_001307561.1:p.Arg422= | |
| NM_001320633.2:c.1404G>A | NP_001307562.1:p.Arg468= | |
| NM_001320640.2:c.1533G>A | NP_001307569.1:p.Arg511= | |
| NM_001320641.2:c.1680G>A | NP_001307570.1:p.Arg560= | |
| NM_004305.4:c.1356G>A | NP_004296.1:p.Arg452= | |
| NM_139344.3:c.1644G>A | NP_647594.1:p.Arg548= | |
| NM_139345.3:c.1512G>A | NP_647595.1:p.Arg504= | |
| NM_139346.3:c.1485G>A | NP_647596.1:p.Arg495= | |
| NM_139347.3:c.1548G>A | NP_647597.1:p.Arg516= | |
| NM_139348.3:c.1440G>A | NP_647598.1:p.Arg480= | |
| NM_139349.3:c.1419G>A | NP_647599.1:p.Arg473= | |
| NM_139350.3:c.1311G>A | NP_647600.1:p.Arg437= | |
| NM_139351.3:c.1221G>A | NP_647601.1:p.Arg407= |