Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147509370C>G , CM000668.2:g.147509370C>G | GRCh38 |
| NC_000006.11:g.147830506C>G , CM000668.1:g.147830506C>G | GRCh37 |
| NC_000006.10:g.147872199C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001030060.3:c.442C>G MANE Select | NP_001025231.1:p.Pro148Ala |
| ENST00000367474.2:c.442C>G MANE Select | ENSP00000356444.1:p.Pro148Ala |
| NM_001030060.2:c.442C>G | NP_001025231.1:p.Pro148Ala |
| ENST00000367474.1:c.442C>G | ENSP00000356444.1:p.Pro148Ala |
| ENST00000566741.1:c.145C>G | ENSP00000456528.1:p.Pro49Ala |
| XM_011535819.1:c.442C>G | XP_011534121.1:p.Pro148Ala |
| XM_017010850.1:c.442C>G | XP_016866339.1:p.Pro148Ala |