Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518095G>A , CM000666.2:g.3518095G>A | GRCh38 |
| NC_000004.11:g.3519822G>A , CM000666.1:g.3519822G>A | GRCh37 |
| NC_000004.10:g.3489620G>A | NCBI36 |
| NG_033873.1:g.19403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.690C>T | ENSP00000496947.1:p.Ser230= | |
| ENST00000650182.1:c.690C>T MANE Select | ENSP00000497444.1:p.Ser230= | |
| ENST00000296325.9:n.653C>T | ||
| ENST00000500728.2:c.690C>T | ENSP00000421922.1:p.Ser230= | |
| ENST00000509198.1:n.736C>T | ||
| ENST00000515119.5:c.*467C>T | ENSP00000421648.1:n.*467C>T | |
| NM_002337.3:c.690C>T | NP_002328.1:p.Ser230= | |
| NR_110005.1:n.653C>T | ||
| NM_002337.4:c.690C>T MANE Select | NP_002328.1:p.Ser230= | |
| XR_002959730.1:n.775C>T | ||
| NR_110005.2:n.653C>T |