Linked Data
ClinVar Variation Id:
376307
ClinVar RCV Id:
RCV000419112
RCV000421013
RCV000423848
RCV000426295
RCV000429387
RCV000432117
RCV000438754
RCV000438919
RCV000439424
RCV000638983
dbSNP Id:
rs121913385
gnomAD v2:
9-21971111-G-A
gnomAD v4:
9-21971112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21971112G>A , CM000671.2:g.21971112G>A | GRCh38 |
| NC_000009.11:g.21971111G>A , CM000671.1:g.21971111G>A | GRCh37 |
| NC_000009.10:g.21961111G>A | NCBI36 |
| NG_007485.1:g.28380C>T , LRG_11:g.28380C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.247C>T MANE Select | ENSP00000307101.5:p.His83Tyr | |
| ENST00000404796.3:c.348-58321G>A | ENSP00000385916.2:n.348-58321G>A | |
| ENST00000579755.2:c.290C>T MANE Plus Clinical | ENSP00000462950.1:p.Ala97Val | |
| ENST00000304494.9:c.247C>T | ENSP00000307101.5:p.His83Tyr | |
| ENST00000361570.4:c.289C>T | ENSP00000355153.4:p.His97Tyr | |
| ENST00000380150.2:n.221C>T | ||
| ENST00000380151.3:c.521C>T | ENSP00000369496.3:n.521C>T | |
| ENST00000404796.2:c.348-58321G>A | ENSP00000385916.2:n.348-58321G>A | |
| ENST00000479692.2:c.94C>T | ENSP00000466887.1:p.His32Tyr | |
| ENST00000494262.5:c.94C>T | ENSP00000464952.1:p.His32Tyr | |
| ENST00000497750.1:c.94C>T | ENSP00000468510.1:p.His32Tyr | |
| ENST00000498124.1:c.247C>T | ENSP00000418915.1:p.His83Tyr | |
| ENST00000498628.6:c.94C>T | ENSP00000467857.1:p.His32Tyr | |
| ENST00000530628.2:c.290C>T | ENSP00000432664.2:p.Ala97Val | |
| ENST00000578845.2:c.94C>T | ENSP00000467390.1:p.His32Tyr | |
| ENST00000579122.1:c.247C>T | ENSP00000464202.1:p.His83Tyr | |
| ENST00000579755.1:c.290C>T | ENSP00000462950.1:p.Ala97Val | |
| NM_000077.4:c.247C>T , LRG_11t1:c.247C>T | NP_000068.1:p.His83Tyr | |
| NM_001195132.1:c.247C>T | NP_001182061.1:p.His83Tyr | |
| NM_058195.3:c.290C>T , LRG_11t2:c.290C>T | NP_478102.2:p.Ala97Val | |
| NM_058197.4:c.521C>T | NP_478104.2:n.521C>T | |
| XM_005251343.1:c.94C>T | XP_005251400.1:p.His32Tyr | |
| XM_011517675.1:c.247C>T | XP_011515977.1:p.His83Tyr | |
| XM_011517676.1:c.247C>T | XP_011515978.1:p.His83Tyr | |
| XM_011517679.1:c.94C>T | XP_011515981.1:p.His32Tyr | |
| XR_929159.1:n.648C>T | ||
| XR_929161.1:n.437C>T | ||
| XR_929162.1:n.437C>T | ||
| XR_929163.1:n.386C>T | ||
| XR_929164.1:n.169C>T | ||
| NM_001363763.1:c.94C>T | NP_001350692.1:p.His32Tyr | |
| XM_011517675.2:c.247C>T | XP_011515977.1:p.His83Tyr | |
| XM_011517676.2:c.247C>T | XP_011515978.1:p.His83Tyr | |
| XR_929159.2:n.577C>T | ||
| NM_001363763.2:c.94C>T | NP_001350692.1:p.His32Tyr | |
| NM_000077.5:c.247C>T MANE Select | NP_000068.1:p.His83Tyr | |
| NM_001195132.2:c.247C>T | NP_001182061.1:p.His83Tyr | |
| NM_058195.4:c.290C>T MANE Plus Clinical | NP_478102.2:p.Ala97Val | |
| NM_058197.5:c.*170C>T | NP_478104.2:n.*170C>T |