Linked Data
dbSNP Id:
rs751141486
ExAC:
1:209823412 T / TA
gnomAD v2:
1-209823412-T-TA
gnomAD v4:
1-209650067-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209650068dup , CM000663.2:g.209650068dup | GRCh38 |
| NC_000001.10:g.209823413dup , CM000663.1:g.209823413dup | GRCh37 |
| NC_000001.9:g.207890036dup | NCBI36 |
| NG_007116.1:g.7408dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.79dup MANE Select | ENSP00000348384.3:p.Tyr27LeufsTer27 | |
| ENST00000356082.8:c.79dup | ENSP00000348384.3:p.Tyr27LeufsTer27 | |
| ENST00000367030.7:c.79dup | ENSP00000355997.3:p.Tyr27LeufsTer27 | |
| ENST00000391911.5:c.79dup | ENSP00000375778.1:p.Tyr27LeufsTer27 | |
| ENST00000415782.1:c.79dup | ENSP00000388960.1:p.Tyr27LeufsTer27 | |
| NM_000228.2:c.79dup | NP_000219.2:p.Tyr27LeufsTer27 | |
| NM_001017402.1:c.79dup | NP_001017402.1:p.Tyr27LeufsTer27 | |
| NM_001127641.1:c.79dup | NP_001121113.1:p.Tyr27LeufsTer27 | |
| XM_005273124.3:c.79dup | XP_005273181.1:p.Tyr27LeufsTer27 | |
| XM_005273124.4:c.79dup | XP_005273181.1:p.Tyr27LeufsTer27 | |
| XM_017001272.2:c.79dup | XP_016856761.1:p.Tyr27LeufsTer27 | |
| NM_000228.3:c.79dup MANE Select | NP_000219.2:p.Tyr27LeufsTer27 | |
| NM_001017402.2:c.79dup | NP_001017402.1:p.Tyr27LeufsTer27 |