Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78534579C>T , CM000666.2:g.78534579C>T | GRCh38 |
| NC_000004.11:g.79455733C>T , CM000666.1:g.79455733C>T | GRCh37 |
| NC_000004.10:g.79674757C>T | NCBI36 |
| NG_015812.1:g.482010C>T | |
| NG_015812.2:g.482010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11056C>T MANE Select | ENSP00000422834.2:p.Leu3686= | |
| ENST00000512123.3:c.11056C>T | ENSP00000422834.2:p.Leu3686= | |
| NM_025074.6:c.11056C>T | NP_079350.5:p.Leu3686= | |
| XM_006714314.1:c.11050C>T | XP_006714377.1:p.Leu3684= | |
| XM_006714316.1:c.10828C>T | XP_006714379.1:p.Leu3610= | |
| XM_011532270.1:c.8755C>T | XP_011530572.1:p.Leu2919= | |
| XM_011532271.1:c.5944C>T | XP_011530573.1:p.Leu1982= | |
| XM_006714316.3:c.10828C>T | XP_006714379.1:p.Leu3610= | |
| NM_025074.7:c.11056C>T MANE Select | NP_079350.5:p.Leu3686= |