Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113060902T>C , CM000664.2:g.113060902T>C | GRCh38 |
| NC_000002.11:g.113818479T>C , CM000664.1:g.113818479T>C | GRCh37 |
| NC_000002.10:g.113534950T>C | NCBI36 |
| NG_031864.1:g.7265T>C , LRG_730:g.7265T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012275.3:c.80T>C MANE Select | NP_036407.1:p.Leu27Pro |
| ENST00000393200.7:c.80T>C MANE Select | ENSP00000376896.2:p.Leu27Pro |
| NM_012275.2:c.80T>C , LRG_730t2:c.80T>C | NP_036407.1:p.Leu27Pro |
| NM_173170.1:c.80T>C , LRG_730t1:c.80T>C | NP_775262.1:p.Leu27Pro |
| ENST00000346807.7:c.80T>C | ENSP00000259212.3:p.Leu27Pro |
| ENST00000393200.6:c.80T>C | ENSP00000376896.2:p.Leu27Pro |
| ENST00000437409.1:c.80T>C | ENSP00000409262.1:p.Leu27Pro |
| ENST00000437409.2:c.80T>C | ENSP00000409262.2:p.Leu27Pro |