Linked Data
ClinVar Variation Id:
16086
ClinVar RCV Id:
RCV000017466
dbSNP Id:
rs121434583
PubMed:
PMID:18478038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95606800G>A , CM000672.2:g.95606800G>A | GRCh38 |
| NC_000010.10:g.97366557G>A , CM000672.1:g.97366557G>A | GRCh37 |
| NC_000010.9:g.97356547G>A | NCBI36 |
| NG_012258.1:g.55011C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371224.7:c.2350C>T MANE Select | ENSP00000360268.2:p.His784Tyr | |
| ENST00000371221.3:c.2344C>T | ENSP00000360265.3:p.His782Tyr | |
| ENST00000371224.6:c.2350C>T | ENSP00000360268.2:p.His784Tyr | |
| NM_001017423.1:c.2344C>T | NP_001017423.1:p.His782Tyr | |
| NM_002860.3:c.2350C>T | NP_002851.2:p.His784Tyr | |
| XM_006717933.1:c.2350C>T | XP_006717996.1:p.His784Tyr | |
| XM_011540001.1:c.2017C>T | XP_011538303.1:p.His673Tyr | |
| NM_001323412.1:c.2017C>T | NP_001310341.1:p.His673Tyr | |
| NM_001323413.1:c.2350C>T | NP_001310342.1:p.His784Tyr | |
| NM_001323414.1:c.2350C>T | NP_001310343.1:p.His784Tyr | |
| NM_001323415.1:c.2344C>T | NP_001310344.1:p.His782Tyr | |
| NM_001323416.1:c.2017C>T | NP_001310345.1:p.His673Tyr | |
| NM_001323417.1:c.2245C>T | NP_001310346.1:p.His749Tyr | |
| NM_001323418.1:c.2011C>T | NP_001310347.1:p.His671Tyr | |
| NM_001323419.1:c.1714C>T | NP_001310348.1:p.His572Tyr | |
| XM_024448094.1:c.2452C>T | XP_024303862.1:p.His818Tyr | |
| XM_024448095.1:c.2452C>T | XP_024303863.1:p.His818Tyr | |
| XM_024448096.1:c.2446C>T | XP_024303864.1:p.His816Tyr | |
| XM_024448097.1:c.2119C>T | XP_024303865.1:p.His707Tyr | |
| NM_002860.4:c.2350C>T MANE Select | NP_002851.2:p.His784Tyr | |
| NM_001017423.2:c.2344C>T | NP_001017423.1:p.His782Tyr | |
| NM_001323412.2:c.2017C>T | NP_001310341.1:p.His673Tyr | |
| NM_001323413.2:c.2350C>T | NP_001310342.1:p.His784Tyr | |
| NM_001323414.2:c.2350C>T | NP_001310343.1:p.His784Tyr | |
| NM_001323415.2:c.2344C>T | NP_001310344.1:p.His782Tyr | |
| NM_001323416.2:c.2017C>T | NP_001310345.1:p.His673Tyr | |
| NM_001323417.2:c.2245C>T | NP_001310346.1:p.His749Tyr | |
| NM_001323418.2:c.2011C>T | NP_001310347.1:p.His671Tyr | |
| NM_001323419.2:c.1714C>T | NP_001310348.1:p.His572Tyr |