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
ClinVar Variation Id:
29801
ClinVar RCV Id:
RCV000022671
dbSNP Id:
rs387906658
PubMed:
PMID:20045868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101670362T>C , CM000674.2:g.101670362T>C | GRCh38 |
| NC_000012.11:g.102064140T>C , CM000674.1:g.102064140T>C | GRCh37 |
| NC_000012.10:g.100588271T>C | NCBI36 |
| NG_031912.1:g.80432T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361466.7:c.2566T>C MANE Select | ENSP00000354849.2:p.Tyr856His | |
| ENST00000361466.6:c.2566T>C | ENSP00000354849.2:p.Tyr856His | |
| ENST00000361685.6:c.2566T>C | ENSP00000354845.2:p.Tyr856His | |
| ENST00000392934.7:c.2452T>C | ENSP00000376665.3:p.Tyr818His | |
| ENST00000441232.5:c.*215T>C | ENSP00000388989.3:n.*215T>C | |
| ENST00000452455.6:c.2545T>C | ENSP00000400908.2:p.Tyr849His | |
| ENST00000536007.5:c.2434T>C | ENSP00000446128.1:p.Tyr812His | |
| ENST00000541119.5:c.2455T>C | ENSP00000442847.1:p.Tyr819His | |
| ENST00000545503.6:c.2491T>C | ENSP00000440034.2:p.Tyr831His | |
| ENST00000547405.5:c.2413T>C | ENSP00000448175.1:p.Tyr805His | |
| ENST00000547509.5:c.2449T>C | ENSP00000447362.1:p.Tyr817His | |
| ENST00000548298.5:n.464T>C | ||
| ENST00000548532.5:n.393T>C | ||
| ENST00000549145.5:c.2584T>C | ENSP00000447660.1:p.Tyr862His | |
| ENST00000549608.1:n.805T>C | ||
| ENST00000550270.1:c.2545T>C | ENSP00000449702.1:p.Tyr849His | |
| ENST00000550501.3:n.575-12242T>C | ||
| ENST00000551300.5:c.2194T>C | ENSP00000447116.1:p.Tyr732His | |
| ENST00000553190.5:c.2491T>C | ENSP00000447900.1:p.Tyr831His | |
| NM_001254718.1:c.2545T>C | NP_001241647.1:p.Tyr849His | |
| NM_001254719.1:c.2491T>C | NP_001241648.1:p.Tyr831His | |
| NM_001254720.1:c.2455T>C | NP_001241649.1:p.Tyr819His | |
| NM_001254721.1:c.2434T>C | NP_001241650.1:p.Tyr812His | |
| NM_001254722.1:c.2413T>C | NP_001241651.1:p.Tyr805His | |
| NM_001254723.1:c.2452T>C | NP_001241652.1:p.Tyr818His | |
| NM_002465.3:c.2566T>C | NP_002456.2:p.Tyr856His | |
| NM_206819.2:c.2566T>C | NP_996555.1:p.Tyr856His | |
| NM_206820.2:c.2545T>C | NP_996556.1:p.Tyr849His | |
| NM_206821.2:c.2491T>C | NP_996557.1:p.Tyr831His | |
| XM_005268876.3:c.2530T>C | XP_005268933.1:p.Tyr844His | |
| XM_006719405.2:c.2620T>C | XP_006719468.1:p.Tyr874His | |
| XM_006719406.2:c.2620T>C | XP_006719469.1:p.Tyr874His | |
| XM_006719407.2:c.2584T>C | XP_006719470.1:p.Tyr862His | |
| XM_006719408.2:c.2566T>C | XP_006719471.1:p.Tyr856His | |
| XM_006719409.2:c.2545T>C | XP_006719472.1:p.Tyr849His | |
| XM_006719410.2:c.2620T>C | XP_006719473.1:p.Tyr874His | |
| XM_006719411.2:c.2545T>C | XP_006719474.1:p.Tyr849His | |
| XM_005268876.4:c.2530T>C | XP_005268933.1:p.Tyr844His | |
| XM_006719405.4:c.2620T>C | XP_006719468.1:p.Tyr874His | |
| XM_006719406.4:c.2620T>C | XP_006719469.1:p.Tyr874His | |
| XM_006719407.3:c.2584T>C | XP_006719470.1:p.Tyr862His | |
| XM_006719408.4:c.2566T>C | XP_006719471.1:p.Tyr856His | |
| XM_006719409.3:c.2545T>C | XP_006719472.1:p.Tyr849His | |
| XM_006719410.4:c.2620T>C | XP_006719473.1:p.Tyr874His | |
| XM_006719411.3:c.2545T>C | XP_006719474.1:p.Tyr849His | |
| XM_017019315.2:c.2563T>C | XP_016874804.1:p.Tyr855His | |
| XM_017019316.2:c.2620T>C | XP_016874805.1:p.Tyr874His | |
| XM_017019317.1:c.2491T>C | XP_016874806.1:p.Tyr831His | |
| XM_017019318.2:c.2509T>C | XP_016874807.1:p.Tyr837His | |
| XM_017019319.2:c.2488T>C | XP_016874808.1:p.Tyr830His | |
| XM_017019320.1:c.2467T>C | XP_016874809.1:p.Tyr823His | |
| XM_017019321.2:c.2434T>C | XP_016874810.1:p.Tyr812His | |
| XM_017019322.1:c.2356T>C | XP_016874811.1:p.Tyr786His | |
| NM_002465.4:c.2566T>C MANE Select | NP_002456.2:p.Tyr856His | |
| NM_001254718.2:c.2545T>C | NP_001241647.1:p.Tyr849His | |
| NM_001254719.2:c.2491T>C | NP_001241648.1:p.Tyr831His | |
| NM_001254720.2:c.2455T>C | NP_001241649.1:p.Tyr819His | |
| NM_001254721.2:c.2434T>C | NP_001241650.1:p.Tyr812His | |
| NM_001254722.2:c.2413T>C | NP_001241651.1:p.Tyr805His | |
| NM_001254723.2:c.2452T>C | NP_001241652.1:p.Tyr818His | |
| NM_206819.3:c.2566T>C | NP_996555.1:p.Tyr856His | |
| NM_206820.3:c.2545T>C | NP_996556.1:p.Tyr849His | |
| NM_206821.3:c.2491T>C | NP_996557.1:p.Tyr831His |