Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983393T>C , CM000678.2:g.56983393T>C | GRCh38 |
| NC_000016.9:g.57017305T>C , CM000678.1:g.57017305T>C | GRCh37 |
| NC_000016.8:g.55574806T>C | NCBI36 |
| NG_008952.1:g.26471T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.1389T>C MANE Select | ENSP00000200676.3:p.Pro463= | |
| ENST00000200676.7:c.1389T>C | ENSP00000200676.3:p.Pro463= | |
| ENST00000379780.6:c.1209T>C | ENSP00000369106.2:p.Pro403= | |
| ENST00000566128.1:c.1194T>C | ENSP00000456276.1:p.Pro398= | |
| NM_000078.2:c.1389T>C | NP_000069.2:p.Pro463= | |
| NM_001286085.1:c.1209T>C | NP_001273014.1:p.Pro403= | |
| NM_000078.3:c.1389T>C MANE Select | NP_000069.2:p.Pro463= | |
| NM_001286085.2:c.1209T>C | NP_001273014.1:p.Pro403= |