Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196581G>T , CM000679.2:g.73196581G>T | GRCh38 |
| NC_000017.10:g.71192720G>T , CM000679.1:g.71192720G>T | GRCh37 |
| NC_000017.9:g.68704315G>T | NCBI36 |
| NG_008971.1:g.8548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.390G>T MANE Select | ENSP00000299886.4:p.Lys130Asn | |
| ENST00000299886.8:c.390G>T | ENSP00000299886.4:p.Lys130Asn | |
| ENST00000438720.7:c.388G>T | ||
| ENST00000582587.2:c.387G>T | ||
| ENST00000618996.4:c.390G>T | ENSP00000479450.1:p.Lys130Asn | |
| NM_018714.2:c.390G>T | NP_061184.1:p.Lys130Asn | |
| NM_018714.3:c.390G>T MANE Select | NP_061184.1:p.Lys130Asn |