Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32126329C>A , CM000667.2:g.32126329C>A | GRCh38 |
| NC_000005.9:g.32126435C>A , CM000667.1:g.32126435C>A | GRCh37 |
| NC_000005.8:g.32162192C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265070.7:c.780G>T MANE Select | ENSP00000265070.6:p.Gln260His | |
| ENST00000265070.6:c.780G>T | ENSP00000265070.6:p.Gln260His | |
| NM_022130.3:c.780G>T | NP_071413.1:p.Gln260His | |
| XM_017009686.2:c.504G>T | XP_016865175.1:p.Gln168His | |
| NM_022130.4:c.780G>T MANE Select | NP_071413.1:p.Gln260His |