Linked Data
MyVariant Identifiers:
chr9:g.101304263C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541981C>G , CM000671.2:g.98541981C>G | GRCh38 |
| NC_000009.11:g.101304263C>G , CM000671.1:g.101304263C>G | GRCh37 |
| NC_000009.10:g.100344084C>G | NCBI36 |
| NG_016426.1:g.172217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.522G>C MANE Select | ENSP00000259455.2:p.Arg174= | |
| ENST00000637410.1:n.300G>C | ||
| ENST00000637717.1:c.138G>C | ENSP00000490789.1:p.Arg46= | |
| ENST00000259455.3:c.522G>C | ENSP00000259455.2:p.Arg174= | |
| ENST00000477471.1:n.309G>C | ||
| ENST00000634227.1:n.296G>C | ||
| NM_005458.7:c.522G>C | NP_005449.5:p.Arg174= | |
| XM_017015331.2:c.228G>C | XP_016870820.1:p.Arg76= | |
| NM_005458.8:c.522G>C MANE Select | NP_005449.5:p.Arg174= |