Linked Data
ClinVar Variation Id:
1244144
ClinVar RCV Id:
RCV001648410
dbSNP Id:
rs17435959
ExAC:
11:102651313 G / C
gnomAD v2:
11-102651313-G-C
gnomAD v3:
11-102780582-G-C
gnomAD v4:
11-102780582-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102780582G>C , CM000673.2:g.102780582G>C | GRCh38 |
| NC_000011.9:g.102651313G>C , CM000673.1:g.102651313G>C | GRCh37 |
| NC_000011.8:g.102156523G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279441.9:c.10C>G (MMP10) MANE Select | ENSP00000279441.4:p.Leu4Val | |
| ENST00000279441.8:c.10C>G (MMP10) | ENSP00000279441.4:p.Leu4Val | |
| ENST00000371455.7:n.325-17442G>C (WTAPP1) | ||
| ENST00000539681.1:c.10C>G (MMP10) | ENSP00000441485.1:p.Leu4Val | |
| NM_002425.2:c.10C>G (MMP10) | NP_002416.1:p.Leu4Val | |
| NM_002425.3:c.10C>G (MMP10) MANE Select | NP_002416.1:p.Leu4Val |