Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540722T>C , CM000666.2:g.78540722T>C | GRCh38 |
| NC_000004.11:g.79461876T>C , CM000666.1:g.79461876T>C | GRCh37 |
| NC_000004.10:g.79680900T>C | NCBI36 |
| NG_015812.1:g.488153T>C | |
| NG_015812.2:g.488153T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025074.7:c.11637T>C MANE Select | NP_079350.5:p.Asn3879= |
| ENST00000512123.4:c.11637T>C MANE Select | ENSP00000422834.2:p.Asn3879= |
| NM_025074.6:c.11637T>C | NP_079350.5:p.Asn3879= |
| ENST00000512123.3:c.11637T>C | ENSP00000422834.2:p.Asn3879= |
| XM_006714314.1:c.11631T>C | XP_006714377.1:p.Asn3877= |
| XM_006714316.1:c.11409T>C | XP_006714379.1:p.Asn3803= |
| XM_006714316.3:c.11409T>C | XP_006714379.1:p.Asn3803= |
| XM_011532270.1:c.9336T>C | XP_011530572.1:p.Asn3112= |
| XM_011532271.1:c.6525T>C | XP_011530573.1:p.Asn2175= |