Linked Data
dbSNP Id:
rs1360159296
gnomAD v2:
9-101277576-C-T
gnomAD v3:
9-98515294-C-T
gnomAD v4:
9-98515294-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98515294C>T , CM000671.2:g.98515294C>T | GRCh38 |
| NC_000009.11:g.101277576C>T , CM000671.1:g.101277576C>T | GRCh37 |
| NC_000009.10:g.100317397C>T | NCBI36 |
| NG_016426.1:g.198904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.631-18780G>A MANE Select | ENSP00000259455.2:n.631-18780G>A | |
| ENST00000637410.1:n.409-18780G>A | ||
| ENST00000259455.3:c.631-18780G>A | ENSP00000259455.2:n.631-18780G>A | |
| ENST00000477471.1:n.418-18780G>A | ||
| ENST00000634227.1:n.405-18780G>A | ||
| ENST00000634919.1:n.306+700G>A | ||
| NM_005458.7:c.631-18780G>A | NP_005449.5:n.631-18780G>A | |
| XM_005252316.3:c.-144-18780G>A | XP_005252373.1:n.-144-18780G>A | |
| XM_005252316.5:c.-144-18780G>A | XP_005252373.1:n.-144-18780G>A | |
| XM_017015331.2:c.337-18780G>A | XP_016870820.1:n.337-18780G>A | |
| NM_005458.8:c.631-18780G>A MANE Select | NP_005449.5:n.631-18780G>A |