Linked Data
ClinVar Variation Id:
446440
ClinVar RCV Id:
RCV000515693
dbSNP Id:
rs753580324
gnomAD v4:
2-26461763-G-C
PubMed:
PMID:22575033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26461763G>C , CM000664.2:g.26461763G>C | GRCh38 |
| NC_000002.11:g.26684631G>C , CM000664.1:g.26684631G>C | GRCh37 |
| NC_000002.10:g.26538135G>C | NCBI36 |
| NG_009937.1:g.101936C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5466C>G MANE Select | ENSP00000272371.2:p.Tyr1822Ter | |
| ENST00000339598.8:c.3165C>G MANE Plus Clinical | ENSP00000344521.3:p.Tyr1055Ter | |
| ENST00000402415.8:c.3225C>G | ENSP00000383906.4:p.Tyr1075Ter | |
| ENST00000272371.6:c.5466C>G | ENSP00000272371.2:p.Tyr1822Ter | |
| ENST00000338581.10:c.3165C>G | ENSP00000345137.6:p.Tyr1055Ter | |
| ENST00000339598.7:c.3165C>G | ENSP00000344521.3:p.Tyr1055Ter | |
| ENST00000402415.7:c.3396C>G | ENSP00000383906.3:p.Tyr1132Ter | |
| ENST00000403946.7:c.5466C>G | ENSP00000385255.3:p.Tyr1822Ter | |
| NM_001287489.1:c.5466C>G | NP_001274418.1:p.Tyr1822Ter | |
| NM_004802.3:c.3165C>G | NP_004793.2:p.Tyr1055Ter | |
| NM_194248.2:c.5466C>G | NP_919224.1:p.Tyr1822Ter | |
| NM_194322.2:c.3396C>G | NP_919303.1:p.Tyr1132Ter | |
| NM_194323.2:c.3165C>G | NP_919304.1:p.Tyr1055Ter | |
| XM_005264644.2:c.5451C>G | XP_005264701.1:p.Tyr1817Ter | |
| XM_011533185.1:c.5511C>G | XP_011531487.1:p.Tyr1837Ter | |
| XM_017005338.1:c.5406C>G | XP_016860827.1:p.Tyr1802Ter | |
| NM_001287489.2:c.5466C>G | NP_001274418.1:p.Tyr1822Ter | |
| NM_004802.4:c.3165C>G | NP_004793.2:p.Tyr1055Ter | |
| NM_194248.3:c.5466C>G MANE Select | NP_919224.1:p.Tyr1822Ter | |
| NM_194322.3:c.3396C>G | NP_919303.1:p.Tyr1132Ter | |
| NM_194323.3:c.3165C>G MANE Plus Clinical | NP_919304.1:p.Tyr1055Ter |