Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031545T>C , CM000664.2:g.61031545T>C | GRCh38 |
| NC_000002.11:g.61258680T>C , CM000664.1:g.61258680T>C | GRCh37 |
| NC_000002.10:g.61112184T>C | NCBI36 |
| NG_008665.1:g.18869T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.219T>C MANE Select | NP_002609.1:p.Pro73= |
| ENST00000295030.6:c.219T>C MANE Select | ENSP00000295030.4:p.Pro73= |
| NM_002618.3:c.219T>C | NP_002609.1:p.Pro73= |
| ENST00000295030.5:c.219T>C | ENSP00000295030.4:p.Pro73= |
| ENST00000472678.1:n.282T>C | |
| XM_011532904.1:c.102T>C | XP_011531206.1:p.Pro34= |