Linked Data
ClinVar Variation Id:
2880860
ClinVar RCV Id:
RCV003715595
dbSNP Id:
rs749193972
ExAC:
2:61128111 G / GT
gnomAD v2:
2-61128111-G-GT
gnomAD v3:
2-60900976-G-GT
gnomAD v4:
2-60900976-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60900983dup , CM000664.2:g.60900983dup | GRCh38 |
| NC_000002.11:g.61128118dup , CM000664.1:g.61128118dup | GRCh37 |
| NC_000002.10:g.60981622dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.303-9dup | ENSP00000514191.1:n.303-9dup | |
| ENST00000699192.1:c.303-9dup | ENSP00000514192.1:n.303-9dup | |
| ENST00000699193.1:c.302+6438dup | ENSP00000514193.1:n.302+6438dup | |
| ENST00000699194.1:n.254-9dup | ||
| ENST00000394479.4:c.303-9dup MANE Select | ENSP00000377989.4:n.303-9dup | |
| ENST00000642725.1:c.2065-9dup | ENSP00000496299.1:n.2065-9dup | |
| ENST00000295025.12:c.303-9dup | ENSP00000295025.7:n.303-9dup | |
| ENST00000394479.3:c.303-9dup | ENSP00000377989.3:n.303-9dup | |
| NM_001291746.1:c.303-9dup | NP_001278675.1:n.303-9dup | |
| NM_002908.3:c.303-9dup | NP_002899.1:n.303-9dup | |
| XM_011533010.1:c.9-9dup | XP_011531312.1:n.9-9dup | |
| XM_011533010.3:c.9-9dup | XP_011531312.1:n.9-9dup | |
| XM_017004627.2:c.303-9dup | XP_016860116.1:n.303-9dup | |
| NM_001291746.2:c.303-9dup MANE Select | NP_001278675.1:n.303-9dup | |
| NM_002908.4:c.303-9dup | NP_002899.1:n.303-9dup |