Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135821840A>G , CM000664.2:g.135821840A>G | GRCh38 |
| NC_000002.11:g.136579410A>G , CM000664.1:g.136579410A>G | GRCh37 |
| NC_000002.10:g.136295880A>G | NCBI36 |
| NG_008104.2:g.38330T>C , LRG_338:g.38330T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.986+180T>C (LCT) MANE Select | NP_002290.2:n.986+180T>C |
| ENST00000264162.7:c.986+180T>C (LCT) MANE Select | ENSP00000264162.2:n.986+180T>C |
| NM_002299.2:c.986+180T>C , LRG_338t1:c.986+180T>C (LCT) | NP_002290.2:n.986+180T>C |
| NM_002299.3:c.986+180T>C (LCT) | NP_002290.2:n.986+180T>C |
| NR_045486.1:n.615A>G (LCT-AS1) | |
| ENST00000264162.6:c.986+180T>C (LCT) | ENSP00000264162.2:n.986+180T>C |
| XM_017004088.2:c.986+180T>C (LCT) | XP_016859577.1:n.986+180T>C |