Linked Data
ClinVar Variation Id:
2163564
ClinVar RCV Id:
RCV003073355
gnomAD v4:
6-42964799-G-A
MyVariant Identifiers:
chr6:g.42932537G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964799G>A , CM000668.2:g.42964799G>A | GRCh38 |
| NC_000006.11:g.42932537G>A , CM000668.1:g.42932537G>A | GRCh37 |
| NC_000006.10:g.43040515G>A | NCBI36 |
| NG_008370.1:g.19445C>T | |
| NG_008396.1:g.9038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2797C>T MANE Select | ENSP00000303511.8:p.Leu933= | |
| ENST00000244546.4:c.2550C>T | ENSP00000244546.4:n.2550C>T | |
| ENST00000304611.12:c.2797C>T | ENSP00000303511.8:p.Leu933= | |
| NM_000287.3:c.2797C>T | NP_000278.3:p.Leu933= | |
| NM_001316313.1:c.2533C>T | NP_001303242.1:p.Leu845= | |
| NR_133009.1:n.2643C>T | ||
| XM_011514661.1:c.2713C>T | XP_011512963.1:p.Leu905= | |
| XM_011514661.2:c.2713C>T | XP_011512963.1:p.Leu905= | |
| XR_001743466.2:n.3759C>T | ||
| NM_000287.4:c.2797C>T MANE Select | NP_000278.3:p.Leu933= | |
| NM_001316313.2:c.2533C>T | NP_001303242.1:p.Leu845= | |
| NR_133009.2:n.2581C>T |