Linked Data
dbSNP Id:
rs2039546103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016118G>A , CM000681.2:g.49016118G>A | GRCh38 |
| NC_000019.9:g.49519375G>A , CM000681.1:g.49519375G>A | GRCh37 |
| NC_000019.8:g.54211187G>A | NCBI36 |
| NG_011464.1:g.5973C>T | |
| NG_033041.1:g.27220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.376C>T MANE Select | ENSP00000497294.2:p.His126Tyr | |
| ENST00000649284.1:n.467C>T | ||
| ENST00000221421.6:c.376C>T | ENSP00000221421.1:p.His126Tyr | |
| ENST00000391869.4:c.370C>T | ENSP00000375742.4:p.His124Tyr | |
| NM_000894.2:c.376C>T | NP_000885.1:p.His126Tyr | |
| XM_011526975.1:c.424C>T | XP_011525277.1:p.His142Tyr | |
| NM_000894.3:c.376C>T MANE Select | NP_000885.1:p.His126Tyr |