Linked Data
ClinVar Variation Id:
513972
ClinVar RCV Id:
RCV000606469
dbSNP Id:
rs1555910377
gnomAD v4:
X-13777346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13777346G>A , CM000685.2:g.13777346G>A | GRCh38 |
| NC_000023.10:g.13795465G>A , CM000685.1:g.13795465G>A | GRCh37 |
| NC_000023.9:g.13705386G>A | NCBI36 |
| NG_011988.1:g.166367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454189.7:c.594+6C>T (GPM6B) | ENSP00000389915.2:n.594+6C>T | |
| ENST00000683454.1:n.4601G>A (OFD1) | ||
| ENST00000316715.9:c.771+6C>T (GPM6B) MANE Select | ENSP00000316861.4:n.771+6C>T | |
| ENST00000316715.8:c.771+6C>T (GPM6B) | ENSP00000316861.4:n.771+6C>T | |
| ENST00000355135.6:c.771+6C>T (GPM6B) | ENSP00000347258.2:n.771+6C>T | |
| ENST00000356942.9:c.651+6C>T (GPM6B) | ENSP00000349420.5:n.651+6C>T | |
| ENST00000398361.7:c.393+6C>T (GPM6B) | ENSP00000381402.3:n.393+6C>T | |
| ENST00000454189.6:c.594+6C>T (GPM6B) | ENSP00000389915.2:n.594+6C>T | |
| ENST00000472735.5:n.337+6C>T (GPM6B) | ||
| ENST00000493677.5:c.693+6C>T (GPM6B) | ENSP00000419904.1:n.693+6C>T | |
| ENST00000495211.2:n.546+6C>T (GPM6B) | ||
| NM_001001994.1:c.594+6C>T (GPM6B) | NP_001001994.1:n.594+6C>T | |
| NM_001001995.1:c.771+6C>T (GPM6B) | NP_001001995.1:n.771+6C>T | |
| NM_001001996.1:c.771+6C>T (GPM6B) | NP_001001996.1:n.771+6C>T | |
| NM_005278.3:c.651+6C>T (GPM6B) | NP_005269.1:n.651+6C>T | |
| XM_005274489.3:c.651+6C>T (GPM6B) | XP_005274546.1:n.651+6C>T | |
| XM_005274490.3:c.594+6C>T (GPM6B) | XP_005274547.1:n.594+6C>T | |
| XM_011545497.1:c.714+6C>T (GPM6B) | XP_011543799.1:n.714+6C>T | |
| NM_001001994.2:c.594+6C>T (GPM6B) | NP_001001994.1:n.594+6C>T | |
| NM_001001995.2:c.771+6C>T (GPM6B) | NP_001001995.1:n.771+6C>T | |
| NM_001001996.2:c.771+6C>T (GPM6B) | NP_001001996.1:n.771+6C>T | |
| NM_001318729.1:c.594+6C>T (GPM6B) | NP_001305658.1:n.594+6C>T | |
| NM_005278.4:c.651+6C>T (GPM6B) | NP_005269.1:n.651+6C>T | |
| XM_005274489.5:c.651+6C>T (GPM6B) | XP_005274546.1:n.651+6C>T | |
| XM_011545497.2:c.714+6C>T (GPM6B) | XP_011543799.1:n.714+6C>T | |
| XM_017029432.1:c.714+6C>T (GPM6B) | XP_016884921.1:n.714+6C>T | |
| NM_001001995.3:c.771+6C>T (GPM6B) MANE Select | NP_001001995.1:n.771+6C>T | |
| NM_001001994.3:c.594+6C>T (GPM6B) | NP_001001994.1:n.594+6C>T | |
| NM_001001996.3:c.771+6C>T (GPM6B) | NP_001001996.1:n.771+6C>T | |
| NM_001318729.2:c.594+6C>T (GPM6B) | NP_001305658.1:n.594+6C>T | |
| NM_005278.5:c.651+6C>T (GPM6B) | NP_005269.1:n.651+6C>T |