Linked Data
dbSNP Id:
rs1042893598
gnomAD v2:
15-48714325-T-G
gnomAD v3:
15-48422128-T-G
gnomAD v4:
15-48422128-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422128T>G , CM000677.2:g.48422128T>G | GRCh38 |
| NC_000015.9:g.48714325T>G , CM000677.1:g.48714325T>G | GRCh37 |
| NC_000015.8:g.46501617T>G | NCBI36 |
| NG_008805.2:g.228661A>C , LRG_778:g.228661A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*262-60A>C | ENSP00000453958.2:n.*262-60A>C | |
| ENST00000674301.2:c.*967-60A>C | ENSP00000501333.2:n.*967-60A>C | |
| ENST00000682170.1:n.1635-60A>C | ||
| ENST00000682767.1:n.751-60A>C | ||
| ENST00000316623.10:c.7454-60A>C MANE Select | ENSP00000325527.5:n.7454-60A>C | |
| ENST00000674301.1:c.2620-60A>C | ENSP00000501333.1:n.2620-60A>C | |
| ENST00000316623.9:c.7454-60A>C | ENSP00000325527.5:n.7454-60A>C | |
| ENST00000559133.5:c.2823-60A>C | ||
| NM_000138.4:c.7454-60A>C , LRG_778t1:c.7454-60A>C | NP_000129.3:n.7454-60A>C | |
| NM_000138.5:c.7454-60A>C MANE Select | NP_000129.3:n.7454-60A>C |