Linked Data
dbSNP Id:
rs766074978
ExAC:
1:169521853 A / AT
gnomAD v2:
1-169521853-A-AT
gnomAD v4:
1-169552615-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552616dup , CM000663.2:g.169552616dup | GRCh38 |
| NC_000001.10:g.169521854dup , CM000663.1:g.169521854dup | GRCh37 |
| NC_000001.9:g.167788478dup | NCBI36 |
| NG_011806.1:g.38916dup , LRG_553:g.38916dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1237dup MANE Select | ENSP00000356771.3:p.Met413AsnfsTer? | |
| ENST00000367796.3:c.1237dup | ENSP00000356770.3:p.Met413AsnfsTer? | |
| ENST00000367797.7:c.1237dup | ENSP00000356771.3:p.Met413AsnfsTer? | |
| NM_000130.4:c.1237dup , LRG_553t1:c.1237dup | NP_000121.2:p.Met413AsnfsTer? | |
| XM_017000660.2:c.826dup | XP_016856149.1:p.Met276AsnfsTer? | |
| NM_000130.5:c.1237dup MANE Select | NP_000121.2:p.Met413AsnfsTer? |