Linked Data
dbSNP Id:
rs1038630607
gnomAD v2:
15-48736560-G-C
gnomAD v3:
15-48444363-G-C
gnomAD v4:
15-48444363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48444363G>C , CM000677.2:g.48444363G>C | GRCh38 |
| NC_000015.9:g.48736560G>C , CM000677.1:g.48736560G>C | GRCh37 |
| NC_000015.8:g.46523852G>C | NCBI36 |
| NG_008805.2:g.206426C>G , LRG_778:g.206426C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6037+178C>G | ENSP00000453958.2:n.6037+178C>G | |
| ENST00000674301.2:c.6037+178C>G | ENSP00000501333.2:n.6037+178C>G | |
| ENST00000684448.1:n.4889C>G | ||
| ENST00000316623.10:c.6037+178C>G MANE Select | ENSP00000325527.5:n.6037+178C>G | |
| ENST00000674301.1:c.1036+178C>G | ENSP00000501333.1:n.1036+178C>G | |
| ENST00000316623.9:c.6037+178C>G | ENSP00000325527.5:n.6037+178C>G | |
| ENST00000537463.6:c.*1800+178C>G | ENSP00000440294.2:n.*1800+178C>G | |
| ENST00000559133.5:c.1344+178C>G | ||
| ENST00000560820.1:n.157+178C>G | ||
| NM_000138.4:c.6037+178C>G , LRG_778t1:c.6037+178C>G | NP_000129.3:n.6037+178C>G | |
| NM_000138.5:c.6037+178C>G MANE Select | NP_000129.3:n.6037+178C>G |