Linked Data
dbSNP Id:
rs2051824359
gnomAD v3:
16-3728759-T-G
gnomAD v4:
16-3728759-T-G
MyVariant Identifiers:
chr16:g.3778760T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728759T>G , CM000678.2:g.3728759T>G | GRCh38 |
| NC_000016.9:g.3778760T>G , CM000678.1:g.3778760T>G | GRCh37 |
| NC_000016.8:g.3718761T>G | NCBI36 |
| NG_009873.1:g.156362A>C | |
| NG_009873.2:g.156955A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6288A>C MANE Select | ENSP00000262367.5:p.Leu2096= | |
| ENST00000262367.9:c.6288A>C | ENSP00000262367.5:p.Leu2096= | |
| ENST00000382070.7:c.6174A>C | ENSP00000371502.3:p.Leu2058= | |
| NM_001079846.1:c.6174A>C | NP_001073315.1:p.Leu2058= | |
| NM_004380.2:c.6288A>C | NP_004371.2:p.Leu2096= | |
| XM_005255124.3:c.6243A>C | XP_005255181.1:p.Leu2081= | |
| XM_005255125.3:c.5871A>C | XP_005255182.1:p.Leu1957= | |
| XM_006720848.2:c.6027A>C | XP_006720911.1:p.Leu2009= | |
| XM_011522380.1:c.6234A>C | XP_011520682.1:p.Leu2078= | |
| XM_011522381.1:c.5535A>C | XP_011520683.1:p.Leu1845= | |
| XM_005255124.4:c.6243A>C | XP_005255181.1:p.Leu2081= | |
| XM_005255125.4:c.5871A>C | XP_005255182.1:p.Leu1957= | |
| XM_006720848.3:c.6027A>C | XP_006720911.1:p.Leu2009= | |
| XM_011522381.2:c.5535A>C | XP_011520683.1:p.Leu1845= | |
| XM_017022944.1:c.6282A>C | XP_016878433.1:p.Leu2094= | |
| NM_004380.3:c.6288A>C MANE Select | NP_004371.2:p.Leu2096= |