Linked Data
ClinVar Variation Id:
90549
ClinVar RCV Id:
RCV000076044
dbSNP Id:
rs63751219
PubMed:
PMID:8566964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47429792_47429793dup , CM000664.2:g.47429792_47429793dup | GRCh38 |
| NC_000002.11:g.47656931_47656932dup , CM000664.1:g.47656931_47656932dup | GRCh37 |
| NC_000002.10:g.47510435_47510436dup | NCBI36 |
| NG_007110.2:g.31669_31670dup , LRG_218:g.31669_31670dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1127_1128dup | ENSP00000495641.2:p.Gln377TyrfsTer? | |
| ENST00000233146.7:c.1127_1128dup MANE Select | ENSP00000233146.2:p.Gln377TyrfsTer? | |
| ENST00000543555.6:c.929_930dup | ENSP00000442697.1:p.Gln311TyrfsTer? | |
| ENST00000644092.1:c.1127_1128dup | ENSP00000496351.1:p.Gln377TyrfsTer? | |
| ENST00000645339.1:c.1127_1128dup | ENSP00000496441.1:p.Gln377TyrfsTer? | |
| ENST00000645506.1:c.1127_1128dup | ENSP00000495455.1:p.Gln377TyrfsTer? | |
| ENST00000646415.1:c.1127_1128dup | ENSP00000495543.1:p.Gln377TyrfsTer? | |
| ENST00000233146.6:c.1127_1128dup | ENSP00000233146.2:p.Gln377TyrfsTer? | |
| ENST00000406134.5:c.1127_1128dup | ENSP00000384199.1:p.Gln377TyrfsTer? | |
| ENST00000543555.5:c.929_930dup | ENSP00000442697.1:p.Gln311TyrfsTer? | |
| ENST00000610696.4:c.1127_1128dup | ENSP00000483159.1:p.Gln377TyrfsTer? | |
| ENST00000613514.4:c.1127_1128dup | ENSP00000484137.1:p.Gln377TyrfsTer? | |
| ENST00000617333.3:c.1127_1128dup | ENSP00000482468.1:p.Gln377TyrfsTer12 | |
| ENST00000617938.4:c.*99_*100dup | ENSP00000481158.1:n.*99_*100dup | |
| ENST00000621359.2:c.1127_1128dup | ENSP00000481416.1:p.Gln377TyrfsTer? | |
| NM_000251.2:c.1127_1128dup , LRG_218t1:c.1127_1128dup | NP_000242.1:p.Gln377TyrfsTer? | |
| NM_001258281.1:c.929_930dup | NP_001245210.1:p.Gln311TyrfsTer? | |
| XM_005264332.2:c.1127_1128dup | XP_005264389.2:p.Gln377TyrfsTer? | |
| XM_011532867.1:c.1127_1128dup | XP_011531169.1:p.Gln377TyrfsTer? | |
| XR_939685.1:n.1199_1200dup | ||
| XM_005264332.4:c.1127_1128dup | XP_005264389.2:p.Gln377TyrfsTer? | |
| XM_011532867.2:c.1127_1128dup | XP_011531169.1:p.Gln377TyrfsTer? | |
| XR_001738747.2:n.1189_1190dup | ||
| XR_939685.2:n.1189_1190dup | ||
| NM_000251.3:c.1127_1128dup MANE Select | NP_000242.1:p.Gln377TyrfsTer? |