Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83915198G>C , CM000678.2:g.83915198G>C | GRCh38 |
| NC_000016.9:g.83948803G>C , CM000678.1:g.83948803G>C | GRCh37 |
| NC_000016.8:g.82506304G>C | NCBI36 |
| NG_009079.1:g.21074G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.1191G>C MANE Select | NP_036345.2:p.Pro397= |
| ENST00000262430.6:c.1191G>C MANE Select | ENSP00000262430.4:p.Pro397= |
| NM_012213.2:c.1191G>C | NP_036345.2:p.Pro397= |
| ENST00000262430.5:c.1191G>C | ENSP00000262430.4:p.Pro397= |
| ENST00000561562.5:c.301+2831G>C | |
| ENST00000563312.5:c.258+2831G>C | ENSP00000477143.1:n.258+2831G>C |
| ENST00000566309.2:c.258+2831G>C | ENSP00000476300.1:n.258+2831G>C |
| ENST00000569024.1:n.3516G>C |