Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2304411T>C , CM000663.2:g.2304411T>C | GRCh38 |
| NC_000001.10:g.2235850T>C , CM000663.1:g.2235850T>C | GRCh37 |
| NC_000001.9:g.2225710T>C | NCBI36 |
| NG_013084.1:g.80717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378536.5:c.1593T>C MANE Select | ENSP00000367797.4:p.Pro531= | |
| ENST00000378536.4:c.1593T>C | ENSP00000367797.4:p.Pro531= | |
| NM_003036.3:c.1593T>C | NP_003027.1:p.Pro531= | |
| XM_005244775.2:c.1599T>C | XP_005244832.1:p.Pro533= | |
| XM_005244776.3:c.729T>C | XP_005244833.1:p.Pro243= | |
| XM_005244775.3:c.1599T>C | XP_005244832.1:p.Pro533= | |
| XM_005244776.4:c.729T>C | XP_005244833.1:p.Pro243= | |
| XM_017002128.1:c.1107T>C | XP_016857617.1:p.Pro369= | |
| NM_003036.4:c.1593T>C MANE Select | NP_003027.1:p.Pro531= |