Linked Data
dbSNP Id:
rs769879890
ExAC:
7:150883656 A / C
gnomAD v2:
7-150883656-A-C
gnomAD v4:
7-151186569-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186569A>C , CM000669.2:g.151186569A>C | GRCh38 |
| NC_000007.13:g.150883656A>C , CM000669.1:g.150883656A>C | GRCh37 |
| NC_000007.12:g.150514589A>C | NCBI36 |
| NG_017016.1:g.6264T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.407T>G MANE Select | ENSP00000391137.2:p.Leu136Arg | |
| ENST00000275838.5:c.407T>G | ENSP00000275838.1:p.Leu136Arg | |
| ENST00000377867.7:c.362T>G | ENSP00000367098.3:p.Leu121Arg | |
| ENST00000420175.2:c.407T>G | ENSP00000391137.2:p.Leu136Arg | |
| NM_001142459.1:c.407T>G | NP_001135931.2:p.Leu136Arg | |
| NM_001142460.1:c.407T>G | NP_001135932.2:p.Leu136Arg | |
| NM_080871.3:c.362T>G | NP_543147.2:p.Leu121Arg | |
| XM_005249949.3:c.542T>G | XP_005250006.1:p.Leu181Arg | |
| NM_001142459.2:c.407T>G MANE Select | NP_001135931.2:p.Leu136Arg | |
| NM_080871.4:c.362T>G | NP_543147.2:p.Leu121Arg |