Linked Data
ClinVar Variation Id:
2937784
ClinVar RCV Id:
RCV003794414
dbSNP Id:
rs28940301
gnomAD v4:
3-10149894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149894C>T , CM000665.2:g.10149894C>T | GRCh38 |
| NC_000003.11:g.10191578C>T , CM000665.1:g.10191578C>T | GRCh37 |
| NC_000003.10:g.10166578C>T | NCBI36 |
| NG_008212.3:g.13260C>T , LRG_322:g.13260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*248C>T | ENSP00000512434.1:n.*248C>T | |
| ENST00000696143.1:c.707C>T | ENSP00000512435.1:n.707C>T | |
| ENST00000696153.1:c.682C>T | ENSP00000512444.1:p.His228Tyr | |
| ENST00000256474.3:c.571C>T MANE Select | ENSP00000256474.3:p.His191Tyr | |
| ENST00000256474.2:c.571C>T | ENSP00000256474.2:p.His191Tyr | |
| ENST00000345392.2:c.448C>T | ENSP00000344757.2:p.His150Tyr | |
| ENST00000477538.1:n.707C>T | ||
| NM_000551.3:c.571C>T , LRG_322t1:c.571C>T | NP_000542.1:p.His191Tyr | |
| NM_198156.2:c.448C>T | NP_937799.1:p.His150Tyr | |
| NM_001354723.1:c.*125C>T | NP_001341652.1:n.*125C>T | |
| NM_000551.4:c.571C>T MANE Select | NP_000542.1:p.His191Tyr | |
| NM_001354723.2:c.*125C>T | NP_001341652.1:n.*125C>T | |
| NM_198156.3:c.448C>T | NP_937799.1:p.His150Tyr |