Linked Data
dbSNP Id:
rs1489069840
gnomAD v2:
2-73717337-A-T
gnomAD v3:
2-73490210-A-T
gnomAD v4:
2-73490210-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490210A>T , CM000664.2:g.73490210A>T | GRCh38 |
| NC_000002.11:g.73717337A>T , CM000664.1:g.73717337A>T | GRCh37 |
| NC_000002.10:g.73570845A>T | NCBI36 |
| NG_011690.1:g.109458A>T , LRG_741:g.109458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7870A>T | ENSP00000507671.1:p.Asn2624Tyr | |
| ENST00000682801.1:c.7870A>T | ENSP00000507862.1:p.Asn2624Tyr | |
| ENST00000682859.1:c.7870A>T | ENSP00000508222.1:p.Asn2624Tyr | |
| ENST00000683791.1:c.1262A>T | ||
| ENST00000684460.1:c.5322A>T | ||
| ENST00000684548.1:c.7870A>T | ENSP00000507421.1:p.Asn2624Tyr | |
| ENST00000684590.1:c.2317A>T | ENSP00000507376.1:p.Asn773Tyr | |
| ENST00000684656.1:c.5322A>T | ||
| ENST00000613296.6:c.8251A>T MANE Select | ENSP00000482968.1:p.Asn2751Tyr | |
| ENST00000651434.1:c.896-29565A>T | ||
| ENST00000423048.5:c.3030+52A>T | ENSP00000399833.1:n.3030+52A>T | |
| ENST00000484298.5:c.8125A>T | ENSP00000478155.1:p.Asn2709Tyr | |
| ENST00000613296.4:c.8251A>T | ENSP00000482968.1:p.Asn2751Tyr | |
| ENST00000614410.4:c.8251A>T | ENSP00000479094.1:p.Asn2751Tyr | |
| ENST00000620466.4:n.2054A>T | ||
| NM_015120.4:c.8254A>T , LRG_741t1:c.8254A>T | NP_055935.4:p.Asn2752Tyr | |
| NM_001378454.1:c.8251A>T MANE Select | NP_001365383.1:p.Asn2751Tyr |