Linked Data
dbSNP Id:
rs368325317
ExAC:
15:48726758 C / T
gnomAD v2:
15-48726758-C-T
gnomAD v4:
15-48434561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434561C>T , CM000677.2:g.48434561C>T | GRCh38 |
| NC_000015.9:g.48726758C>T , CM000677.1:g.48726758C>T | GRCh37 |
| NC_000015.8:g.46514050C>T | NCBI36 |
| NG_008805.2:g.216228G>A , LRG_778:g.216228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6616+33G>A | ENSP00000453958.2:n.6616+33G>A | |
| ENST00000674301.2:c.6616+33G>A | ENSP00000501333.2:n.6616+33G>A | |
| ENST00000682170.1:n.225+33G>A | ||
| ENST00000316623.10:c.6616+33G>A MANE Select | ENSP00000325527.5:n.6616+33G>A | |
| ENST00000674301.1:c.1615+33G>A | ENSP00000501333.1:n.1615+33G>A | |
| ENST00000316623.9:c.6616+33G>A | ENSP00000325527.5:n.6616+33G>A | |
| ENST00000537463.6:c.*2379+33G>A | ENSP00000440294.2:n.*2379+33G>A | |
| ENST00000559133.5:c.1923+33G>A | ||
| NM_000138.4:c.6616+33G>A , LRG_778t1:c.6616+33G>A | NP_000129.3:n.6616+33G>A | |
| NM_000138.5:c.6616+33G>A MANE Select | NP_000129.3:n.6616+33G>A |