UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1368834223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127048587T>C , CM000664.2:g.127048587T>C | GRCh38 |
| NC_000002.11:g.127806163T>C , CM000664.1:g.127806163T>C | GRCh37 |
| NC_000002.10:g.127522633T>C | NCBI36 |
| NG_012042.1:g.63702A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352848.8:c.1304A>G | ENSP00000315284.4:p.His435Arg | |
| ENST00000316724.10:c.1721A>G MANE Select | ENSP00000316779.5:p.His574Arg | |
| ENST00000259238.8:c.1433A>G | ENSP00000259238.4:p.His478Arg | |
| ENST00000316724.9:c.1721A>G | ENSP00000316779.5:p.His574Arg | |
| ENST00000346226.7:c.1496A>G | ENSP00000315411.3:p.His499Arg | |
| ENST00000348750.8:c.1169A>G | ENSP00000259237.5:p.His390Arg | |
| ENST00000351659.7:c.1460A>G | ENSP00000315388.3:p.His487Arg | |
| ENST00000352848.7:c.1304A>G | ENSP00000315284.4:p.His435Arg | |
| ENST00000357970.7:c.1592A>G | ENSP00000350654.3:p.His531Arg | |
| ENST00000376113.6:c.1214A>G | ENSP00000365281.2:p.His405Arg | |
| ENST00000393040.7:c.1388A>G | ENSP00000376760.3:p.His463Arg | |
| ENST00000393041.7:c.1367A>G | ENSP00000376761.3:p.His456Arg | |
| ENST00000409400.1:c.1259A>G | ENSP00000386797.1:p.His420Arg | |
| ENST00000462958.5:n.4587A>G | ||
| NM_004305.3:c.1304A>G | NP_004296.1:p.His435Arg | |
| NM_139343.2:c.1721A>G | NP_647593.1:p.His574Arg | |
| NM_139344.2:c.1592A>G | NP_647594.1:p.His531Arg | |
| NM_139345.2:c.1460A>G | NP_647595.1:p.His487Arg | |
| NM_139346.2:c.1433A>G | NP_647596.1:p.His478Arg | |
| NM_139347.2:c.1496A>G | NP_647597.1:p.His499Arg | |
| NM_139348.2:c.1388A>G | NP_647598.1:p.His463Arg | |
| NM_139349.2:c.1367A>G | NP_647599.1:p.His456Arg | |
| NM_139350.2:c.1259A>G | NP_647600.1:p.His420Arg | |
| NM_139351.2:c.1169A>G | NP_647601.1:p.His390Arg | |
| XM_005263642.2:c.1766A>G | XP_005263699.1:p.His589Arg | |
| XM_005263643.2:c.1673A>G | XP_005263700.1:p.His558Arg | |
| XM_005263644.2:c.1628A>G | XP_005263701.1:p.His543Arg | |
| XM_005263645.1:c.1601A>G | XP_005263702.1:p.His534Arg | |
| XM_005263646.2:c.1352A>G | XP_005263703.1:p.His451Arg | |
| XM_005263647.2:c.1214A>G | XP_005263704.1:p.His405Arg | |
| XM_005263648.1:c.1097A>G | XP_005263705.1:p.His366Arg | |
| XM_006712425.2:c.1634A>G | XP_006712488.1:p.His545Arg | |
| XM_006712426.2:c.1634A>G | XP_006712489.1:p.His545Arg | |
| XM_006712427.1:c.1556A>G | XP_006712490.1:p.His519Arg | |
| XM_006712428.2:c.1526A>G | XP_006712491.1:p.His509Arg | |
| XM_006712429.2:c.1505A>G | XP_006712492.1:p.His502Arg | |
| XM_006712430.2:c.1481A>G | XP_006712493.1:p.His494Arg | |
| XM_006712431.2:c.1436A>G | XP_006712494.1:p.His479Arg | |
| XM_006712432.2:c.1397A>G | XP_006712495.1:p.His466Arg | |
| XM_006712433.2:c.1307A>G | XP_006712496.1:p.His436Arg | |
| XM_006712434.2:c.1262A>G | XP_006712497.1:p.His421Arg | |
| XM_011510975.1:c.1685A>G | XP_011509277.1:p.His562Arg | |
| NM_001320632.1:c.1214A>G | NP_001307561.1:p.His405Arg | |
| NM_001320633.1:c.1352A>G | NP_001307562.1:p.His451Arg | |
| NM_001320634.1:c.1097A>G | NP_001307563.1:p.His366Arg | |
| NM_001320640.1:c.1481A>G | NP_001307569.1:p.His494Arg | |
| NM_001320641.1:c.1628A>G | NP_001307570.1:p.His543Arg | |
| NM_001320642.1:c.1640A>G | NP_001307571.1:p.His547Arg | |
| XM_005263642.4:c.1766A>G | XP_005263699.1:p.His589Arg | |
| XM_005263643.4:c.1673A>G | XP_005263700.1:p.His558Arg | |
| XM_005263645.2:c.1601A>G | XP_005263702.1:p.His534Arg | |
| XM_006712425.4:c.1634A>G | XP_006712488.1:p.His545Arg | |
| XM_006712426.4:c.1634A>G | XP_006712489.1:p.His545Arg | |
| XM_006712427.2:c.1556A>G | XP_006712490.1:p.His519Arg | |
| XM_006712428.4:c.1526A>G | XP_006712491.1:p.His509Arg | |
| XM_006712429.4:c.1505A>G | XP_006712492.1:p.His502Arg | |
| XM_006712431.4:c.1436A>G | XP_006712494.1:p.His479Arg | |
| XM_006712432.4:c.1397A>G | XP_006712495.1:p.His466Arg | |
| XM_006712433.4:c.1307A>G | XP_006712496.1:p.His436Arg | |
| XM_006712434.4:c.1262A>G | XP_006712497.1:p.His421Arg | |
| XM_011510975.3:c.1685A>G | XP_011509277.1:p.His562Arg | |
| XM_017003819.1:c.1694A>G | XP_016859308.1:p.His565Arg | |
| XM_017003820.2:c.1496A>G | XP_016859309.1:p.His499Arg | |
| XM_017003821.2:c.1391A>G | XP_016859310.1:p.His464Arg | |
| XM_017003822.2:c.1298A>G | XP_016859311.1:p.His433Arg | |
| XM_017003823.1:c.1295A>G | XP_016859312.1:p.His432Arg | |
| XM_017003824.1:c.1226A>G | XP_016859313.1:p.His409Arg | |
| XM_017003825.1:c.1190A>G | XP_016859314.1:p.His397Arg | |
| XM_017003826.1:c.1187A>G | XP_016859315.1:p.His396Arg | |
| XM_017003827.2:c.1094A>G | XP_016859316.1:p.His365Arg | |
| XM_017003828.2:c.1049A>G | XP_016859317.1:p.His350Arg | |
| NM_139343.3:c.1721A>G MANE Select | NP_647593.1:p.His574Arg | |
| NM_001320632.2:c.1214A>G | NP_001307561.1:p.His405Arg | |
| NM_001320633.2:c.1352A>G | NP_001307562.1:p.His451Arg | |
| NM_001320640.2:c.1481A>G | NP_001307569.1:p.His494Arg | |
| NM_001320641.2:c.1628A>G | NP_001307570.1:p.His543Arg | |
| NM_004305.4:c.1304A>G | NP_004296.1:p.His435Arg | |
| NM_139344.3:c.1592A>G | NP_647594.1:p.His531Arg | |
| NM_139345.3:c.1460A>G | NP_647595.1:p.His487Arg | |
| NM_139346.3:c.1433A>G | NP_647596.1:p.His478Arg | |
| NM_139347.3:c.1496A>G | NP_647597.1:p.His499Arg | |
| NM_139348.3:c.1388A>G | NP_647598.1:p.His463Arg | |
| NM_139349.3:c.1367A>G | NP_647599.1:p.His456Arg | |
| NM_139350.3:c.1259A>G | NP_647600.1:p.His420Arg | |
| NM_139351.3:c.1169A>G | NP_647601.1:p.His390Arg |