Linked Data
dbSNP Id:
rs759991511
ExAC:
6:137219383 A / AC
gnomAD v2:
6-137219383-A-AC
gnomAD v3:
6-136898245-A-AC
gnomAD v4:
6-136898245-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898246dup , CM000668.2:g.136898246dup | GRCh38 |
| NC_000006.11:g.137219384dup , CM000668.1:g.137219384dup | GRCh37 |
| NC_000006.10:g.137261077dup | NCBI36 |
| NG_008462.1:g.80667dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.903+5dup MANE Select | ENSP00000315680.3:n.903+5dup | |
| ENST00000541292.6:c.*168+5dup | ENSP00000441004.1:n.*168+5dup | |
| ENST00000678002.1:c.591+5dup | ||
| ENST00000678557.1:c.789+5dup | ENSP00000502962.1:n.789+5dup | |
| ENST00000679286.1:c.783+5dup | ENSP00000503168.1:n.783+5dup | |
| ENST00000318471.4:c.903+5dup | ENSP00000315680.3:n.903+5dup | |
| NM_000288.3:c.903+5dup | NP_000279.1:n.903+5dup | |
| XM_005267019.3:c.789+5dup | XP_005267076.1:n.789+5dup | |
| XM_006715502.1:c.609+5dup | XP_006715565.1:n.609+5dup | |
| XM_005267019.4:c.789+5dup | XP_005267076.1:n.789+5dup | |
| XM_006715502.2:c.609+5dup | XP_006715565.1:n.609+5dup | |
| XM_017010934.2:c.*26+5dup | XP_016866423.1:n.*26+5dup | |
| NM_000288.4:c.903+5dup MANE Select | NP_000279.1:n.903+5dup |