Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008156T>C , CM000666.2:g.88008156T>C | GRCh38 |
| NC_000004.11:g.88929308T>C , CM000666.1:g.88929308T>C | GRCh37 |
| NC_000004.10:g.89148332T>C | NCBI36 |
| NG_008604.1:g.5489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.423T>C MANE Select | ENSP00000237596.2:p.Leu141= | |
| ENST00000237596.6:c.423T>C | ENSP00000237596.2:p.Leu141= | |
| NM_000297.3:c.423T>C | NP_000288.1:p.Leu141= | |
| XM_011532028.1:c.423T>C | XP_011530330.1:p.Leu141= | |
| XR_244632.2:n.518T>C | ||
| NR_156488.1:n.510T>C | ||
| XM_011532028.2:c.423T>C | XP_011530330.1:p.Leu141= | |
| NM_000297.4:c.423T>C MANE Select | NP_000288.1:p.Leu141= | |
| NR_156488.2:n.522T>C |