Linked Data
ClinVar Variation Id:
2383741
ClinVar RCV Id:
RCV004219514
dbSNP Id:
rs1577979043
gnomAD v3:
3-185689590-A-G
gnomAD v4:
3-185689590-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185689590A>G , CM000665.2:g.185689590A>G | GRCh38 |
| NC_000003.11:g.185407378A>G , CM000665.1:g.185407378A>G | GRCh37 |
| NC_000003.10:g.186890072A>G | NCBI36 |
| NG_011602.1:g.140450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382199.7:c.442T>C MANE Select | ENSP00000371634.3:p.Tyr148His | |
| ENST00000346192.7:c.442T>C | ENSP00000320204.5:p.Tyr148His | |
| ENST00000382199.6:c.442T>C | ENSP00000371634.2:p.Tyr148His | |
| ENST00000421047.3:c.253T>C | ENSP00000413787.3:p.Tyr85His | |
| ENST00000457616.6:c.460T>C | ENSP00000410242.2:p.Tyr154His | |
| ENST00000461957.5:n.374T>C | ||
| ENST00000493302.5:n.323T>C | ||
| NM_001007225.1:c.442T>C | NP_001007226.1:p.Tyr148His | |
| NM_001291869.1:c.460T>C | NP_001278798.1:p.Tyr154His | |
| NM_001291872.1:c.271T>C | NP_001278801.1:p.Tyr91His | |
| NM_001291873.1:c.253T>C | NP_001278802.1:p.Tyr85His | |
| NM_001291874.1:c.253T>C | NP_001278803.1:p.Tyr85His | |
| NM_001291875.1:c.34T>C | NP_001278804.1:p.Tyr12His | |
| NM_006548.4:c.442T>C | NP_006539.3:p.Tyr148His | |
| XM_011512337.1:c.199T>C | XP_011510639.1:p.Tyr67His | |
| XM_011512338.1:c.442T>C | XP_011510640.1:p.Tyr148His | |
| XM_011512339.1:c.442T>C | XP_011510641.1:p.Tyr148His | |
| XM_011512340.1:c.-28T>C | XP_011510642.1:n.-28T>C | |
| XM_011512341.1:c.442T>C | XP_011510643.1:p.Tyr148His | |
| XR_427358.2:n.521T>C | ||
| NM_001007225.2:c.442T>C | NP_001007226.1:p.Tyr148His | |
| NM_001291869.2:c.460T>C | NP_001278798.1:p.Tyr154His | |
| NM_001291872.2:c.271T>C | NP_001278801.1:p.Tyr91His | |
| NM_001291873.2:c.253T>C | NP_001278802.1:p.Tyr85His | |
| NM_001291874.2:c.253T>C | NP_001278803.1:p.Tyr85His | |
| NM_001291875.2:c.34T>C | NP_001278804.1:p.Tyr12His | |
| NM_006548.5:c.442T>C | NP_006539.3:p.Tyr148His | |
| NR_138486.1:n.538T>C | ||
| XM_017005557.2:c.433T>C | XP_016861046.1:p.Tyr145His | |
| XM_017005558.2:c.460T>C | XP_016861047.1:p.Tyr154His | |
| XM_017005559.2:c.460T>C | XP_016861048.1:p.Tyr154His | |
| XM_017005560.2:c.256T>C | XP_016861049.1:p.Tyr86His | |
| XM_017005561.1:c.460T>C | XP_016861050.1:p.Tyr154His | |
| XM_017005562.1:c.460T>C | XP_016861051.1:p.Tyr154His | |
| XM_017005563.1:c.460T>C | XP_016861052.1:p.Tyr154His | |
| XM_017005564.1:c.460T>C | XP_016861053.1:p.Tyr154His | |
| XM_024453316.1:c.34T>C | XP_024309084.1:p.Tyr12His | |
| XR_001739984.2:n.545T>C | ||
| NM_001007225.3:c.442T>C | NP_001007226.1:p.Tyr148His | |
| NM_001291869.3:c.460T>C | NP_001278798.1:p.Tyr154His | |
| NM_001291872.3:c.271T>C | NP_001278801.1:p.Tyr91His | |
| NM_001291874.3:c.253T>C | NP_001278803.1:p.Tyr85His | |
| NM_001291875.3:c.34T>C | NP_001278804.1:p.Tyr12His | |
| NM_006548.6:c.442T>C MANE Select | NP_006539.3:p.Tyr148His | |
| NR_138486.2:n.524T>C | ||
| NM_001291873.3:c.253T>C | NP_001278802.1:p.Tyr85His |