Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585625C>T , CM000665.2:g.98585625C>T | GRCh38 |
| NC_000003.11:g.98304469C>T , CM000665.1:g.98304469C>T | GRCh37 |
| NC_000003.10:g.99787159C>T | NCBI36 |
| NG_015994.1:g.12987G>A | |
| NG_015994.2:g.12987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.988G>A MANE Select | ENSP00000497326.1:p.Glu330Lys | |
| ENST00000264193.2:c.988G>A | ENSP00000264193.2:p.Glu330Lys | |
| ENST00000510489.1:n.238G>A | ||
| NM_000097.5:c.988G>A | NP_000088.3:p.Glu330Lys | |
| XM_005247125.3:c.988G>A | XP_005247182.1:p.Glu330Lys | |
| NM_000097.7:c.988G>A MANE Select | NP_000088.3:p.Glu330Lys | |
| XM_005247125.4:c.988G>A | XP_005247182.1:p.Glu330Lys | |
| XR_001740025.2:n.1159G>A | ||
| XR_001740026.1:n.1723G>A | ||
| XR_001740027.1:n.1263G>A | ||
| XR_001740028.1:n.1229G>A |