Linked Data
dbSNP Id:
rs1234746045
gnomAD v2:
15-48704776-G-A
gnomAD v3:
15-48412579-G-A
gnomAD v4:
15-48412579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412579G>A , CM000677.2:g.48412579G>A | GRCh38 |
| NC_000015.9:g.48704776G>A , CM000677.1:g.48704776G>A | GRCh37 |
| NC_000015.8:g.46492068G>A | NCBI36 |
| NG_008805.2:g.238210C>T , LRG_778:g.238210C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*1024C>T | ENSP00000453958.2:n.*1024C>T | |
| ENST00000674301.2:c.*1729C>T | ENSP00000501333.2:n.*1729C>T | |
| ENST00000682158.1:n.1597C>T | ||
| ENST00000682170.1:n.2397C>T | ||
| ENST00000682767.1:n.1513C>T | ||
| ENST00000316623.10:c.8216C>T MANE Select | ENSP00000325527.5:p.Ser2739Phe | |
| ENST00000674301.1:c.3382C>T | ENSP00000501333.1:n.3382C>T | |
| ENST00000316623.9:c.8216C>T | ENSP00000325527.5:p.Ser2739Phe | |
| ENST00000559133.5:c.3585C>T | ||
| ENST00000561429.1:n.471C>T | ||
| NM_000138.4:c.8216C>T , LRG_778t1:c.8216C>T | NP_000129.3:p.Ser2739Phe | |
| NM_000138.5:c.8216C>T MANE Select | NP_000129.3:p.Ser2739Phe |