Linked Data
dbSNP Id:
rs2779562
gnomAD v2:
9-101277681-T-C
gnomAD v3:
9-98515399-T-C
gnomAD v4:
9-98515399-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98515399T>C , CM000671.2:g.98515399T>C | GRCh38 |
| NC_000009.11:g.101277681T>C , CM000671.1:g.101277681T>C | GRCh37 |
| NC_000009.10:g.100317502T>C | NCBI36 |
| NG_016426.1:g.198799A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.631-18885A>G MANE Select | ENSP00000259455.2:n.631-18885A>G | |
| ENST00000637410.1:n.409-18885A>G | ||
| ENST00000259455.3:c.631-18885A>G | ENSP00000259455.2:n.631-18885A>G | |
| ENST00000477471.1:n.418-18885A>G | ||
| ENST00000634227.1:n.405-18885A>G | ||
| ENST00000634919.1:n.306+595A>G | ||
| NM_005458.7:c.631-18885A>G | NP_005449.5:n.631-18885A>G | |
| XM_005252316.3:c.-144-18885A>G | XP_005252373.1:n.-144-18885A>G | |
| XM_005252316.5:c.-144-18885A>G | XP_005252373.1:n.-144-18885A>G | |
| XM_017015331.2:c.337-18885A>G | XP_016870820.1:n.337-18885A>G | |
| NM_005458.8:c.631-18885A>G MANE Select | NP_005449.5:n.631-18885A>G |