Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75931097A>G , CM000668.2:g.75931097A>G | GRCh38 |
| NC_000006.11:g.76640814A>G , CM000668.1:g.76640814A>G | GRCh37 |
| NC_000006.10:g.76697534A>G | NCBI36 |
| NG_041812.1:g.146582T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.2099T>C MANE Select | NP_001554.2:p.Val700Ala |
| ENST00000369950.8:c.2099T>C MANE Select | ENSP00000358966.3:p.Val700Ala |
| NM_001282368.1:c.1865T>C | NP_001269297.1:p.Val622Ala |
| NM_001282368.2:c.1865T>C | NP_001269297.1:p.Val622Ala |
| NM_001563.3:c.2099T>C | NP_001554.2:p.Val700Ala |
| ENST00000369950.7:c.2099T>C | ENSP00000358966.3:p.Val700Ala |
| ENST00000369952.3:c.182T>C | ENSP00000358968.3:p.Val61Ala |
| ENST00000611179.4:c.1865T>C | ENSP00000481913.1:p.Val622Ala |