Linked Data
dbSNP Id:
rs1345245957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542371C>T , CM000671.2:g.98542371C>T | GRCh38 |
| NC_000009.11:g.101304653C>T , CM000671.1:g.101304653C>T | GRCh37 |
| NC_000009.10:g.100344474C>T | NCBI36 |
| NG_016426.1:g.171827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.460-328G>A MANE Select | ENSP00000259455.2:n.460-328G>A | |
| ENST00000637410.1:n.238-328G>A | ||
| ENST00000637717.1:c.76-328G>A | ENSP00000490789.1:n.76-328G>A | |
| ENST00000638001.1:n.70-328G>A | ||
| ENST00000259455.3:c.460-328G>A | ENSP00000259455.2:n.460-328G>A | |
| ENST00000477471.1:n.247-328G>A | ||
| ENST00000634227.1:n.234-328G>A | ||
| NM_005458.7:c.460-328G>A | NP_005449.5:n.460-328G>A | |
| XM_017015331.2:c.166-328G>A | XP_016870820.1:n.166-328G>A | |
| NM_005458.8:c.460-328G>A MANE Select | NP_005449.5:n.460-328G>A |