Linked Data
dbSNP Id:
rs768177446
ExAC:
15:102186868 C / A
gnomAD v2:
15-102186868-C-A
gnomAD v4:
15-101646665-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101646665C>A , CM000677.2:g.101646665C>A | GRCh38 |
| NC_000015.9:g.102186868C>A , CM000677.1:g.102186868C>A | GRCh37 |
| NC_000015.8:g.100004391C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333202.8:c.502+60G>T MANE Select | ENSP00000330433.3:n.502+60G>T | |
| ENST00000333202.7:c.502+60G>T | ENSP00000330433.3:n.502+60G>T | |
| ENST00000347970.7:c.424+60G>T | ENSP00000327584.3:n.424+60G>T | |
| ENST00000428002.6:c.424+60G>T | ENSP00000402179.2:n.424+60G>T | |
| ENST00000558129.5:c.333+60G>T | ||
| ENST00000558677.5:c.803+60G>T | ||
| ENST00000559024.5:n.583G>T | ||
| ENST00000559107.5:c.502+60G>T | ENSP00000454131.1:n.502+60G>T | |
| ENST00000560013.5:c.*870+60G>T | ENSP00000453503.1:n.*870+60G>T | |
| ENST00000560910.5:n.504G>T | ||
| ENST00000561373.1:c.307+60G>T | ENSP00000452823.1:n.307+60G>T | |
| NM_001307960.1:c.424+60G>T | NP_001294889.1:n.424+60G>T | |
| NM_001308026.1:c.502+60G>T | NP_001294955.1:n.502+60G>T | |
| NM_025141.3:c.424+60G>T | NP_079417.2:n.424+60G>T | |
| NM_078474.2:c.502+60G>T | NP_510883.2:n.502+60G>T | |
| NM_078474.3:c.502+60G>T MANE Select | NP_510883.2:n.502+60G>T | |
| NM_001307960.2:c.424+60G>T | NP_001294889.1:n.424+60G>T | |
| NM_001308026.2:c.502+60G>T | NP_001294955.1:n.502+60G>T | |
| NM_025141.4:c.424+60G>T | NP_079417.2:n.424+60G>T |