Linked Data
dbSNP Id:
rs946848456
gnomAD v2:
9-101143008-T-A
gnomAD v3:
9-98380726-T-A
gnomAD v4:
9-98380726-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98380726T>A , CM000671.2:g.98380726T>A | GRCh38 |
| NC_000009.11:g.101143008T>A , CM000671.1:g.101143008T>A | GRCh37 |
| NC_000009.10:g.100182829T>A | NCBI36 |
| NG_016426.1:g.333472A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.1662+4914A>T MANE Select | ENSP00000259455.2:n.1662+4914A>T | |
| ENST00000637410.1:n.1440+4914A>T | ||
| ENST00000259455.3:c.1662+4914A>T | ENSP00000259455.2:n.1662+4914A>T | |
| ENST00000634314.1:n.167+4914A>T | ||
| NM_005458.7:c.1662+4914A>T | NP_005449.5:n.1662+4914A>T | |
| XM_005252316.3:c.888+4914A>T | XP_005252373.1:n.888+4914A>T | |
| XM_005252316.5:c.888+4914A>T | XP_005252373.1:n.888+4914A>T | |
| XM_017015331.2:c.1368+4914A>T | XP_016870820.1:n.1368+4914A>T | |
| XM_017015332.2:c.888+4914A>T | XP_016870821.1:n.888+4914A>T | |
| NM_005458.8:c.1662+4914A>T MANE Select | NP_005449.5:n.1662+4914A>T |