Linked Data
dbSNP Id:
rs1435252
gnomAD v2:
9-101103591-G-A
gnomAD v3:
9-98341309-G-A
gnomAD v4:
9-98341309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98341309G>A , CM000671.2:g.98341309G>A | GRCh38 |
| NC_000009.11:g.101103591G>A , CM000671.1:g.101103591G>A | GRCh37 |
| NC_000009.10:g.100143412G>A | NCBI36 |
| NG_016426.1:g.372889C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.1893+21406C>T MANE Select | ENSP00000259455.2:n.1893+21406C>T | |
| ENST00000637410.1:n.1671+21406C>T | ||
| ENST00000259455.3:c.1893+21406C>T | ENSP00000259455.2:n.1893+21406C>T | |
| ENST00000634457.1:c.231+21406C>T | ENSP00000489352.1:n.231+21406C>T | |
| ENST00000635462.1:n.388+21406C>T | ||
| NM_005458.7:c.1893+21406C>T | NP_005449.5:n.1893+21406C>T | |
| XM_005252316.3:c.1119+21406C>T | XP_005252373.1:n.1119+21406C>T | |
| XM_005252316.5:c.1119+21406C>T | XP_005252373.1:n.1119+21406C>T | |
| XM_017015331.2:c.1599+21406C>T | XP_016870820.1:n.1599+21406C>T | |
| XM_017015332.2:c.1119+21406C>T | XP_016870821.1:n.1119+21406C>T | |
| NM_005458.8:c.1893+21406C>T MANE Select | NP_005449.5:n.1893+21406C>T |