Linked Data
ClinVar Variation Id:
29878
ClinVar RCV Id:
RCV000022759
RCV000079122
RCV000327345
RCV000333023
RCV000389868
RCV000515090
RCV001081494
dbSNP Id:
rs148772854
ExAC:
19:39034444 C / T
gnomAD v2:
19-39034444-C-T
gnomAD v3:
19-38543804-C-T
gnomAD v4:
19-38543804-C-T
PubMed:
PMID:20839240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543804C>T , CM000681.2:g.38543804C>T | GRCh38 |
| NC_000019.9:g.39034444C>T , CM000681.1:g.39034444C>T | GRCh37 |
| NC_000019.8:g.43726284C>T | NCBI36 |
| NG_008866.1:g.115105C>T , LRG_766:g.115105C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688602.1:c.351C>T | ||
| ENST00000689936.1:c.333C>T | ||
| ENST00000359596.8:c.11941C>T MANE Select | ENSP00000352608.2:p.His3981Tyr | |
| ENST00000355481.8:c.11926C>T | ENSP00000347667.3:p.His3976Tyr | |
| ENST00000359596.7:c.11941C>T | ENSP00000352608.2:p.His3981Tyr | |
| ENST00000360985.7:c.11923C>T | ENSP00000354254.4:p.His3975Tyr | |
| ENST00000593322.1:c.550C>T | ||
| ENST00000594335.5:c.5310C>T | ||
| NM_000540.2:c.11941C>T , LRG_766t1:c.11941C>T | NP_000531.2:p.His3981Tyr | |
| NM_001042723.1:c.11926C>T | NP_001036188.1:p.His3976Tyr | |
| XM_006723317.1:c.11923C>T | XP_006723380.1:p.His3975Tyr | |
| XM_006723319.1:c.11908C>T | XP_006723382.1:p.His3970Tyr | |
| XM_011527204.1:c.11938C>T | XP_011525506.1:p.His3980Tyr | |
| XM_011527205.1:c.11941C>T | XP_011525507.1:p.His3981Tyr | |
| XM_006723317.2:c.11923C>T | XP_006723380.1:p.His3975Tyr | |
| XM_006723319.2:c.11908C>T | XP_006723382.1:p.His3970Tyr | |
| XM_011527205.2:c.11941C>T | XP_011525507.1:p.His3981Tyr | |
| NM_000540.3:c.11941C>T MANE Select | NP_000531.2:p.His3981Tyr | |
| NM_001042723.2:c.11926C>T | NP_001036188.1:p.His3976Tyr |