Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177353681A>T , CM000666.2:g.177353681A>T | GRCh38 |
| NC_000004.11:g.178274835A>T , CM000666.1:g.178274835A>T | GRCh37 |
| NC_000004.10:g.178511829A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018248.3:c.1413A>T MANE Select | NP_060718.3:p.Gln471His |
| ENST00000264596.4:c.1413A>T MANE Select | ENSP00000264596.3:p.Gln471His |
| NM_018248.2:c.1413A>T | NP_060718.2:p.Gln471His |
| ENST00000264596.3:c.1413A>T | ENSP00000264596.3:p.Gln471His |
| ENST00000513321.1:c.*687A>T | ENSP00000424735.1:n.*687A>T |
| XM_017008360.1:c.1413A>T | XP_016863849.1:p.Gln471His |
| XR_001741926.1:n.360+3314T>A | |
| XR_939503.1:n.445+3314T>A | |
| XR_939504.1:n.556+3314T>A | |
| XR_939505.1:n.335+3314T>A | |
| XR_939506.1:n.216+3314T>A |