Linked Data
gnomAD v4:
1-169552611-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552611T>G , CM000663.2:g.169552611T>G | GRCh38 |
| NC_000001.10:g.169521849T>G , CM000663.1:g.169521849T>G | GRCh37 |
| NC_000001.9:g.167788473T>G | NCBI36 |
| NG_011806.1:g.38921A>C , LRG_553:g.38921A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1242A>C MANE Select | ENSP00000356771.3:p.Lys414Asn | |
| ENST00000367796.3:c.1242A>C | ENSP00000356770.3:p.Lys414Asn | |
| ENST00000367797.7:c.1242A>C | ENSP00000356771.3:p.Lys414Asn | |
| NM_000130.4:c.1242A>C , LRG_553t1:c.1242A>C | NP_000121.2:p.Lys414Asn | |
| XM_017000660.2:c.831A>C | XP_016856149.1:p.Lys277Asn | |
| NM_000130.5:c.1242A>C MANE Select | NP_000121.2:p.Lys414Asn |