Linked Data
ClinVar Variation Id:
88764
ClinVar RCV Id:
RCV000074414
dbSNP Id:
rs397518484
gnomAD v3:
15-74181459-C-T
gnomAD v4:
15-74181459-C-T
PubMed:
PMID:22686418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74181459C>T , CM000677.2:g.74181459C>T | GRCh38 |
| NC_000015.9:g.74473800C>T , CM000677.1:g.74473800C>T | GRCh37 |
| NC_000015.8:g.72260853C>T | NCBI36 |
| NG_009207.1:g.32572G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.1521-1G>A MANE Select | ENSP00000378537.4:n.1521-1G>A | |
| ENST00000323940.9:c.1521-1G>A | ENSP00000326085.5:n.1521-1G>A | |
| ENST00000395105.8:c.1521-1G>A | ENSP00000378537.4:n.1521-1G>A | |
| ENST00000416286.7:c.1497-1G>A | ENSP00000400403.3:n.1497-1G>A | |
| ENST00000423167.6:c.1494-1G>A | ENSP00000413012.2:n.1494-1G>A | |
| ENST00000449139.6:c.1521-1G>A | ENSP00000410221.2:n.1521-1G>A | |
| ENST00000535552.5:c.1632-1G>A | ENSP00000440238.1:n.1632-1G>A | |
| ENST00000545137.5:n.1230-1G>A | ||
| ENST00000563965.5:c.1638-1G>A | ENSP00000456609.1:n.1638-1G>A | |
| ENST00000572785.1:c.376-1G>A | ||
| ENST00000574278.5:c.1566-1G>A | ENSP00000458827.1:n.1566-1G>A | |
| ENST00000574439.5:n.1793-1G>A | ||
| ENST00000616000.4:c.1521-1G>A | ENSP00000479112.1:n.1521-1G>A | |
| NM_001142617.1:c.1521-1G>A | NP_001136089.1:n.1521-1G>A | |
| NM_001142618.1:c.1521-1G>A | NP_001136090.1:n.1521-1G>A | |
| NM_001142619.1:c.1494-1G>A | NP_001136091.1:n.1494-1G>A | |
| NM_001199040.1:c.1632-1G>A | NP_001185969.1:n.1632-1G>A | |
| NM_001199041.1:c.1566-1G>A | NP_001185970.1:n.1566-1G>A | |
| NM_001199042.1:c.1638-1G>A | NP_001185971.1:n.1638-1G>A | |
| NM_022369.3:c.1521-1G>A | NP_071764.3:n.1521-1G>A | |
| XM_011521883.1:c.1521-1G>A | XP_011520185.1:n.1521-1G>A | |
| XM_011521884.1:c.1332-1G>A | XP_011520186.1:n.1332-1G>A | |
| XR_931877.1:n.1604-1G>A | ||
| XM_017022478.1:c.1569-1G>A | XP_016877967.1:n.1569-1G>A | |
| XM_017022479.1:c.1521-1G>A | XP_016877968.1:n.1521-1G>A | |
| XM_017022480.1:c.1332-1G>A | XP_016877969.1:n.1332-1G>A | |
| XR_931877.2:n.1604-1G>A | ||
| NM_022369.4:c.1521-1G>A MANE Select | NP_071764.3:n.1521-1G>A | |
| NM_001142617.2:c.1521-1G>A | NP_001136089.1:n.1521-1G>A | |
| NM_001142619.2:c.1494-1G>A | NP_001136091.1:n.1494-1G>A | |
| NM_001199042.2:c.1638-1G>A | NP_001185971.1:n.1638-1G>A | |
| NM_001142618.2:c.1521-1G>A | NP_001136090.1:n.1521-1G>A | |
| NM_001199040.2:c.1632-1G>A | NP_001185969.1:n.1632-1G>A | |
| NM_001199041.2:c.1566-1G>A | NP_001185970.1:n.1566-1G>A |