Linked Data
dbSNP Id:
rs768488521
ExAC:
2:179318281 T / C
gnomAD v2:
2-179318281-T-C
gnomAD v4:
2-178453554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178453554T>C , CM000664.2:g.178453554T>C | GRCh38 |
| NC_000002.11:g.179318281T>C , CM000664.1:g.179318281T>C | GRCh37 |
| NC_000002.10:g.179026527T>C | NCBI36 |
| NG_009053.1:g.2678A>G | |
| NG_012186.1:g.7119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642192.1:c.-333T>C | ENSP00000494225.1:n.-333T>C | |
| ENST00000642492.1:c.-434T>C | ENSP00000496267.1:n.-434T>C | |
| ENST00000643738.1:c.-333T>C | ENSP00000493684.1:n.-333T>C | |
| ENST00000644554.1:c.-333T>C | ENSP00000495037.1:n.-333T>C | |
| ENST00000644580.2:c.145T>C MANE Select | ENSP00000495855.2:p.Tyr49His | |
| ENST00000645572.1:c.145T>C | ENSP00000494301.1:p.Tyr49His | |
| ENST00000645762.1:n.259T>C | ||
| ENST00000645817.1:c.-333T>C | ENSP00000495731.1:n.-333T>C | |
| ENST00000647226.1:c.-333T>C | ENSP00000496024.1:n.-333T>C | |
| ENST00000375129.8:c.145T>C | ENSP00000364271.4:p.Tyr49His | |
| ENST00000409117.7:c.145T>C | ENSP00000386647.3:p.Tyr49His | |
| ENST00000437056.5:n.304T>C | ||
| NM_001042702.3:c.145T>C | NP_001036167.1:p.Tyr49His | |
| XM_005246627.1:c.154T>C | XP_005246684.1:p.Tyr52His | |
| XM_005246628.2:c.250T>C | XP_005246685.1:p.Tyr84His | |
| XM_005246629.2:c.136T>C | XP_005246686.1:p.Tyr46His | |
| XM_011511247.1:c.250T>C | XP_011509549.1:p.Tyr84His | |
| XM_011511248.1:c.214T>C | XP_011509550.1:p.Tyr72His | |
| XM_011511249.1:c.-266-778T>C | XP_011509551.1:n.-266-778T>C | |
| XM_011511250.1:c.-333T>C | XP_011509552.1:n.-333T>C | |
| XM_011511251.1:c.-266-778T>C | XP_011509553.1:n.-266-778T>C | |
| XR_922929.1:n.917T>C | ||
| NM_001042702.4:c.145T>C | NP_001036167.1:p.Tyr49His | |
| NM_001353775.1:c.154T>C | NP_001340704.1:p.Tyr52His | |
| NM_001353776.1:c.250T>C | NP_001340705.1:p.Tyr84His | |
| NM_001353777.1:c.-333T>C | NP_001340706.1:n.-333T>C | |
| NM_001353778.1:c.-333T>C | NP_001340707.1:n.-333T>C | |
| XM_005246629.4:c.136T>C | XP_005246686.1:p.Tyr46His | |
| XM_011511247.3:c.250T>C | XP_011509549.1:p.Tyr84His | |
| XM_011511249.3:c.-266-778T>C | XP_011509551.1:n.-266-778T>C | |
| XM_017004221.2:c.250T>C | XP_016859710.1:p.Tyr84His | |
| XM_017004224.2:c.-1044T>C | XP_016859713.1:n.-1044T>C | |
| XM_024452927.1:c.-434T>C | XP_024308695.1:n.-434T>C | |
| XM_024452928.1:c.-333T>C | XP_024308696.1:n.-333T>C | |
| XR_001738753.2:n.1957T>C | ||
| XR_002959300.1:n.1957T>C | ||
| XR_922929.3:n.440T>C | ||
| NM_001042702.5:c.145T>C MANE Select | NP_001036167.1:p.Tyr49His | |
| NM_001369912.1:c.145T>C | NP_001356841.1:p.Tyr49His | |
| NM_001353775.2:c.154T>C | NP_001340704.1:p.Tyr52His | |
| NM_001353776.2:c.250T>C | NP_001340705.1:p.Tyr84His | |
| NM_001353778.2:c.-333T>C | NP_001340707.1:n.-333T>C |