Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540839G>A , CM000666.2:g.78540839G>A | GRCh38 |
| NC_000004.11:g.79461993G>A , CM000666.1:g.79461993G>A | GRCh37 |
| NC_000004.10:g.79681017G>A | NCBI36 |
| NG_015812.1:g.488270G>A | |
| NG_015812.2:g.488270G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025074.7:c.11754G>A MANE Select | NP_079350.5:p.Leu3918= |
| ENST00000512123.4:c.11754G>A MANE Select | ENSP00000422834.2:p.Leu3918= |
| NM_025074.6:c.11754G>A | NP_079350.5:p.Leu3918= |
| ENST00000512123.3:c.11754G>A | ENSP00000422834.2:p.Leu3918= |
| XM_006714314.1:c.11748G>A | XP_006714377.1:p.Leu3916= |
| XM_006714316.1:c.11526G>A | XP_006714379.1:p.Leu3842= |
| XM_006714316.3:c.11526G>A | XP_006714379.1:p.Leu3842= |
| XM_011532270.1:c.9453G>A | XP_011530572.1:p.Leu3151= |
| XM_011532271.1:c.6642G>A | XP_011530573.1:p.Leu2214= |