COSMIC:
COSN8863114
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13487465 (NFE)
Genomes Max Group AF
0.13107415 (NFE)
Exomes Max Group AF
0.13584566 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102836635A>T , CM000673.2:g.102836635A>T | GRCh38 |
| NC_000011.9:g.102707366A>T , CM000673.1:g.102707366A>T | GRCh37 |
| NC_000011.8:g.102212576A>T | NCBI36 |
| NG_012100.1:g.11977T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.1334-409T>A (MMP3) MANE Select | ENSP00000299855.5:n.1334-409T>A | |
| ENST00000299855.9:c.1334-409T>A (MMP3) | ENSP00000299855.5:n.1334-409T>A | |
| ENST00000434103.1:c.265-107T>A (MMP3) | ||
| ENST00000525739.6:n.2511A>T (WTAPP1) | ||
| NM_002422.3:c.1334-409T>A (MMP3) | NP_002413.1:n.1334-409T>A | |
| NM_002422.4:c.1334-409T>A (MMP3) | NP_002413.1:n.1334-409T>A | |
| NR_038390.1:n.2511A>T (WTAPP1) | ||
| NM_002422.5:c.1334-409T>A (MMP3) MANE Select | NP_002413.1:n.1334-409T>A |