Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114480T>C , CM000667.2:g.140114480T>C | GRCh38 |
| NC_000005.9:g.139494065T>C , CM000667.1:g.139494065T>C | GRCh37 |
| NC_000005.8:g.139474249T>C | NCBI36 |
| NG_041813.1:g.5358T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331327.5:c.299T>C MANE Select | ENSP00000332706.3:p.Leu100Pro | |
| ENST00000505703.2:c.299T>C | ENSP00000498560.1:p.Leu100Pro | |
| ENST00000651386.1:c.299T>C | ENSP00000499133.1:p.Leu100Pro | |
| ENST00000331327.4:c.299T>C | ENSP00000332706.3:p.Leu100Pro | |
| NM_005859.4:c.299T>C | NP_005850.1:p.Leu100Pro | |
| NM_005859.5:c.299T>C MANE Select | NP_005850.1:p.Leu100Pro |