Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839200C>G , CM000670.2:g.42839200C>G | GRCh38 |
| NC_000008.10:g.42694343C>G , CM000670.1:g.42694343C>G | GRCh37 |
| NC_000008.9:g.42813500C>G | NCBI36 |
| NG_011837.1:g.9132G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254250.7:c.253G>C MANE Select | ENSP00000254250.3:p.Glu85Gln | |
| ENST00000345117.2:c.72-864G>C | ENSP00000344966.2:n.72-864G>C | |
| ENST00000529779.1:c.253G>C | ENSP00000433912.1:p.Glu85Gln | |
| NM_018105.2:c.253G>C | NP_060575.1:p.Glu85Gln | |
| NM_199003.1:c.72-864G>C | NP_945354.1:n.72-864G>C | |
| NM_018105.3:c.253G>C MANE Select | NP_060575.1:p.Glu85Gln | |
| NM_199003.2:c.72-864G>C | NP_945354.1:n.72-864G>C |