Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921626T>G , CM000668.2:g.79921626T>G | GRCh38 |
| NC_000006.11:g.80631343T>G , CM000668.1:g.80631343T>G | GRCh37 |
| NC_000006.10:g.80688062T>G | NCBI36 |
| NG_009108.1:g.30973A>C | |
| NG_009108.2:g.30973A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.540A>C MANE Select | ENSP00000358831.4:p.Gln180His | |
| ENST00000369816.4:c.540A>C | ENSP00000358831.4:p.Gln180His | |
| NM_022726.3:c.540A>C | NP_073563.1:p.Gln180His | |
| NM_022726.4:c.540A>C MANE Select | NP_073563.1:p.Gln180His |