Linked Data
ClinVar Variation Id:
2754497
ClinVar RCV Id:
RCV003563893
MyVariant Identifiers:
chr7:g.107342430A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701985A>G , CM000669.2:g.107701985A>G | GRCh38 |
| NC_000007.13:g.107342430A>G , CM000669.1:g.107342430A>G | GRCh37 |
| NC_000007.12:g.107129666A>G | NCBI36 |
| NG_008489.1:g.46351A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1962A>G MANE Select | ENSP00000494017.1:p.Pro654= | |
| ENST00000644846.1:c.673A>G | ||
| ENST00000265715.7:c.1962A>G | ENSP00000265715.3:p.Pro654= | |
| ENST00000492030.2:n.249A>G | ||
| NM_000441.1:c.1962A>G | NP_000432.1:p.Pro654= | |
| XM_005250425.1:c.1962A>G | XP_005250482.1:p.Pro654= | |
| XM_005250425.2:c.1962A>G | XP_005250482.1:p.Pro654= | |
| XM_017012318.1:c.1884A>G | XP_016867807.1:p.Pro628= | |
| NM_000441.2:c.1962A>G MANE Select | NP_000432.1:p.Pro654= |