Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81207253G>T , CM000667.2:g.81207253G>T | GRCh38 |
| NC_000005.9:g.80503072G>T , CM000667.1:g.80503072G>T | GRCh37 |
| NC_000005.8:g.80538828G>T | NCBI36 |
| NG_030334.1:g.251565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2975G>T MANE Select | ENSP00000265080.4:p.Cys992Phe | |
| ENST00000265080.8:c.2975G>T | ENSP00000265080.4:p.Cys992Phe | |
| ENST00000503795.1:c.2975G>T | ENSP00000421771.1:p.Cys992Phe | |
| NM_006909.2:c.2975G>T | NP_008840.1:p.Cys992Phe | |
| XM_017009682.2:c.2690G>T | XP_016865171.1:p.Cys897Phe | |
| XR_002956166.1:n.3091G>T | ||
| NM_006909.3:c.2975G>T MANE Select | NP_008840.1:p.Cys992Phe |