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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127048593T>G , CM000664.2:g.127048593T>G | GRCh38 |
| NC_000002.11:g.127806169T>G , CM000664.1:g.127806169T>G | GRCh37 |
| NC_000002.10:g.127522639T>G | NCBI36 |
| NG_012042.1:g.63696A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352848.8:c.1298A>C | ENSP00000315284.4:p.Asn433Thr | |
| ENST00000316724.10:c.1715A>C MANE Select | ENSP00000316779.5:p.Asn572Thr | |
| ENST00000259238.8:c.1427A>C | ENSP00000259238.4:p.Asn476Thr | |
| ENST00000316724.9:c.1715A>C | ENSP00000316779.5:p.Asn572Thr | |
| ENST00000346226.7:c.1490A>C | ENSP00000315411.3:p.Asn497Thr | |
| ENST00000348750.8:c.1163A>C | ENSP00000259237.5:p.Asn388Thr | |
| ENST00000351659.7:c.1454A>C | ENSP00000315388.3:p.Asn485Thr | |
| ENST00000352848.7:c.1298A>C | ENSP00000315284.4:p.Asn433Thr | |
| ENST00000357970.7:c.1586A>C | ENSP00000350654.3:p.Asn529Thr | |
| ENST00000376113.6:c.1208A>C | ENSP00000365281.2:p.Asn403Thr | |
| ENST00000393040.7:c.1382A>C | ENSP00000376760.3:p.Asn461Thr | |
| ENST00000393041.7:c.1361A>C | ENSP00000376761.3:p.Asn454Thr | |
| ENST00000409400.1:c.1253A>C | ENSP00000386797.1:p.Asn418Thr | |
| ENST00000462958.5:n.4581A>C | ||
| NM_004305.3:c.1298A>C | NP_004296.1:p.Asn433Thr | |
| NM_139343.2:c.1715A>C | NP_647593.1:p.Asn572Thr | |
| NM_139344.2:c.1586A>C | NP_647594.1:p.Asn529Thr | |
| NM_139345.2:c.1454A>C | NP_647595.1:p.Asn485Thr | |
| NM_139346.2:c.1427A>C | NP_647596.1:p.Asn476Thr | |
| NM_139347.2:c.1490A>C | NP_647597.1:p.Asn497Thr | |
| NM_139348.2:c.1382A>C | NP_647598.1:p.Asn461Thr | |
| NM_139349.2:c.1361A>C | NP_647599.1:p.Asn454Thr | |
| NM_139350.2:c.1253A>C | NP_647600.1:p.Asn418Thr | |
| NM_139351.2:c.1163A>C | NP_647601.1:p.Asn388Thr | |
| XM_005263642.2:c.1760A>C | XP_005263699.1:p.Asn587Thr | |
| XM_005263643.2:c.1667A>C | XP_005263700.1:p.Asn556Thr | |
| XM_005263644.2:c.1622A>C | XP_005263701.1:p.Asn541Thr | |
| XM_005263645.1:c.1595A>C | XP_005263702.1:p.Asn532Thr | |
| XM_005263646.2:c.1346A>C | XP_005263703.1:p.Asn449Thr | |
| XM_005263647.2:c.1208A>C | XP_005263704.1:p.Asn403Thr | |
| XM_005263648.1:c.1091A>C | XP_005263705.1:p.Asn364Thr | |
| XM_006712425.2:c.1628A>C | XP_006712488.1:p.Asn543Thr | |
| XM_006712426.2:c.1628A>C | XP_006712489.1:p.Asn543Thr | |
| XM_006712427.1:c.1550A>C | XP_006712490.1:p.Asn517Thr | |
| XM_006712428.2:c.1520A>C | XP_006712491.1:p.Asn507Thr | |
| XM_006712429.2:c.1499A>C | XP_006712492.1:p.Asn500Thr | |
| XM_006712430.2:c.1475A>C | XP_006712493.1:p.Asn492Thr | |
| XM_006712431.2:c.1430A>C | XP_006712494.1:p.Asn477Thr | |
| XM_006712432.2:c.1391A>C | XP_006712495.1:p.Asn464Thr | |
| XM_006712433.2:c.1301A>C | XP_006712496.1:p.Asn434Thr | |
| XM_006712434.2:c.1256A>C | XP_006712497.1:p.Asn419Thr | |
| XM_011510975.1:c.1679A>C | XP_011509277.1:p.Asn560Thr | |
| NM_001320632.1:c.1208A>C | NP_001307561.1:p.Asn403Thr | |
| NM_001320633.1:c.1346A>C | NP_001307562.1:p.Asn449Thr | |
| NM_001320634.1:c.1091A>C | NP_001307563.1:p.Asn364Thr | |
| NM_001320640.1:c.1475A>C | NP_001307569.1:p.Asn492Thr | |
| NM_001320641.1:c.1622A>C | NP_001307570.1:p.Asn541Thr | |
| NM_001320642.1:c.1634A>C | NP_001307571.1:p.Asn545Thr | |
| XM_005263642.4:c.1760A>C | XP_005263699.1:p.Asn587Thr | |
| XM_005263643.4:c.1667A>C | XP_005263700.1:p.Asn556Thr | |
| XM_005263645.2:c.1595A>C | XP_005263702.1:p.Asn532Thr | |
| XM_006712425.4:c.1628A>C | XP_006712488.1:p.Asn543Thr | |
| XM_006712426.4:c.1628A>C | XP_006712489.1:p.Asn543Thr | |
| XM_006712427.2:c.1550A>C | XP_006712490.1:p.Asn517Thr | |
| XM_006712428.4:c.1520A>C | XP_006712491.1:p.Asn507Thr | |
| XM_006712429.4:c.1499A>C | XP_006712492.1:p.Asn500Thr | |
| XM_006712431.4:c.1430A>C | XP_006712494.1:p.Asn477Thr | |
| XM_006712432.4:c.1391A>C | XP_006712495.1:p.Asn464Thr | |
| XM_006712433.4:c.1301A>C | XP_006712496.1:p.Asn434Thr | |
| XM_006712434.4:c.1256A>C | XP_006712497.1:p.Asn419Thr | |
| XM_011510975.3:c.1679A>C | XP_011509277.1:p.Asn560Thr | |
| XM_017003819.1:c.1688A>C | XP_016859308.1:p.Asn563Thr | |
| XM_017003820.2:c.1490A>C | XP_016859309.1:p.Asn497Thr | |
| XM_017003821.2:c.1385A>C | XP_016859310.1:p.Asn462Thr | |
| XM_017003822.2:c.1292A>C | XP_016859311.1:p.Asn431Thr | |
| XM_017003823.1:c.1289A>C | XP_016859312.1:p.Asn430Thr | |
| XM_017003824.1:c.1220A>C | XP_016859313.1:p.Asn407Thr | |
| XM_017003825.1:c.1184A>C | XP_016859314.1:p.Asn395Thr | |
| XM_017003826.1:c.1181A>C | XP_016859315.1:p.Asn394Thr | |
| XM_017003827.2:c.1088A>C | XP_016859316.1:p.Asn363Thr | |
| XM_017003828.2:c.1043A>C | XP_016859317.1:p.Asn348Thr | |
| NM_139343.3:c.1715A>C MANE Select | NP_647593.1:p.Asn572Thr | |
| NM_001320632.2:c.1208A>C | NP_001307561.1:p.Asn403Thr | |
| NM_001320633.2:c.1346A>C | NP_001307562.1:p.Asn449Thr | |
| NM_001320640.2:c.1475A>C | NP_001307569.1:p.Asn492Thr | |
| NM_001320641.2:c.1622A>C | NP_001307570.1:p.Asn541Thr | |
| NM_004305.4:c.1298A>C | NP_004296.1:p.Asn433Thr | |
| NM_139344.3:c.1586A>C | NP_647594.1:p.Asn529Thr | |
| NM_139345.3:c.1454A>C | NP_647595.1:p.Asn485Thr | |
| NM_139346.3:c.1427A>C | NP_647596.1:p.Asn476Thr | |
| NM_139347.3:c.1490A>C | NP_647597.1:p.Asn497Thr | |
| NM_139348.3:c.1382A>C | NP_647598.1:p.Asn461Thr | |
| NM_139349.3:c.1361A>C | NP_647599.1:p.Asn454Thr | |
| NM_139350.3:c.1253A>C | NP_647600.1:p.Asn418Thr | |
| NM_139351.3:c.1163A>C | NP_647601.1:p.Asn388Thr |