Linked Data
ClinVar Variation Id:
1177325
dbSNP Id:
rs1373863123
gnomAD v2:
7-5569171-G-A
gnomAD v4:
7-5529540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5529540G>A , CM000669.2:g.5529540G>A | GRCh38 |
| NC_000007.13:g.5569171G>A , CM000669.1:g.5569171G>A | GRCh37 |
| NC_000007.12:g.5535697G>A | NCBI36 |
| NG_007992.1:g.6062C>T , LRG_132:g.6062C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417101.2:c.118C>T | ENSP00000399487.2:p.His40Tyr | |
| ENST00000432588.6:c.118C>T | ENSP00000407473.2:p.His40Tyr | |
| ENST00000473257.3:c.-6-140C>T | ENSP00000501773.1:n.-6-140C>T | |
| ENST00000477812.2:n.191C>T | ||
| ENST00000484841.6:n.272C>T | ||
| ENST00000493945.6:c.118C>T | ENSP00000494269.1:p.His40Tyr | |
| ENST00000642480.2:c.118C>T | ENSP00000495995.2:p.His40Tyr | |
| ENST00000645025.1:n.201C>T | ||
| ENST00000645576.1:c.118C>T | ENSP00000496101.1:p.His40Tyr | |
| ENST00000646664.1:c.118C>T MANE Select | ENSP00000494750.1:p.His40Tyr | |
| ENST00000647275.1:c.-3-821C>T | ENSP00000494185.1:n.-3-821C>T | |
| ENST00000674681.1:c.118C>T | ENSP00000502821.1:p.His40Tyr | |
| ENST00000675515.1:c.118C>T | ENSP00000501862.1:p.His40Tyr | |
| ENST00000676189.1:c.118C>T | ENSP00000502538.1:p.His40Tyr | |
| ENST00000676319.1:c.87+31C>T | ENSP00000502193.1:n.87+31C>T | |
| ENST00000676397.1:c.118C>T | ENSP00000502286.1:p.His40Tyr | |
| ENST00000331789.9:c.118C>T | ENSP00000349960.4:p.His40Tyr | |
| ENST00000414620.1:c.118C>T | ENSP00000401032.1:p.His40Tyr | |
| ENST00000417101.1:c.127C>T | ENSP00000399487.1:p.His43Tyr | |
| ENST00000425660.5:c.118C>T | ENSP00000409264.1:p.His40Tyr | |
| ENST00000432588.5:c.118C>T | ENSP00000407473.1:p.His40Tyr | |
| ENST00000443528.5:c.118C>T | ENSP00000393951.1:p.His40Tyr | |
| ENST00000462494.5:n.202C>T | ||
| ENST00000473257.1:n.82-821C>T | ||
| ENST00000477812.1:n.191C>T | ||
| ENST00000480301.1:n.184C>T | ||
| ENST00000484841.5:n.273C>T | ||
| ENST00000493945.5:n.124C>T | ||
| NM_001101.3:c.118C>T , LRG_132t1:c.118C>T | NP_001092.1:p.His40Tyr | |
| NM_001101.4:c.118C>T | NP_001092.1:p.His40Tyr | |
| NM_001101.5:c.118C>T MANE Select | NP_001092.1:p.His40Tyr |