Linked Data
dbSNP Id:
rs778260475
ExAC:
6:7575061 T / TA
gnomAD v2:
6-7575061-T-TA
gnomAD v4:
6-7574828-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7574829dup , CM000668.2:g.7574829dup | GRCh38 |
| NC_000006.11:g.7575062dup , CM000668.1:g.7575062dup | GRCh37 |
| NC_000006.10:g.7520061dup | NCBI36 |
| NG_008803.1:g.38193dup , LRG_423:g.38193dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.2436+34dup | ENSP00000518230.1:n.2436+34dup | |
| ENST00000684395.1:n.1077+34dup | ||
| ENST00000379802.8:c.2436+34dup MANE Select | ENSP00000369129.3:n.2436+34dup | |
| ENST00000379802.7:c.2436+34dup | ENSP00000369129.3:n.2436+34dup | |
| ENST00000418664.2:c.2436+34dup | ENSP00000396591.2:n.2436+34dup | |
| NM_001008844.1:c.2436+34dup | NP_001008844.1:n.2436+34dup | |
| NM_004415.2:c.2436+34dup , LRG_423t1:c.2436+34dup | NP_004406.2:n.2436+34dup | |
| XM_011514323.1:c.2436+34dup | XP_011512625.1:n.2436+34dup | |
| NM_001008844.2:c.2436+34dup | NP_001008844.1:n.2436+34dup | |
| NM_001319034.1:c.2436+34dup | NP_001305963.1:n.2436+34dup | |
| NM_004415.3:c.2436+34dup | NP_004406.2:n.2436+34dup | |
| NM_004415.4:c.2436+34dup MANE Select | NP_004406.2:n.2436+34dup | |
| NM_001008844.3:c.2436+34dup | NP_001008844.1:n.2436+34dup | |
| NM_001319034.2:c.2436+34dup | NP_001305963.1:n.2436+34dup |