Linked Data
dbSNP Id:
rs917135445
gnomAD v2:
15-90631683-A-G
gnomAD v3:
15-90088451-A-G
gnomAD v4:
15-90088451-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088451A>G , CM000677.2:g.90088451A>G | GRCh38 |
| NC_000015.9:g.90631683A>G , CM000677.1:g.90631683A>G | GRCh37 |
| NC_000015.8:g.88432687A>G | NCBI36 |
| NG_023302.1:g.19026T>C , LRG_611:g.19026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.586T>C MANE Select | ENSP00000331897.4:p.Phe196Leu | |
| ENST00000330062.7:c.586T>C | ENSP00000331897.3:p.Phe196Leu | |
| ENST00000540499.2:c.430T>C | ENSP00000446147.2:p.Phe144Leu | |
| ENST00000559482.5:c.259T>C | ENSP00000453016.1:p.Phe87Leu | |
| ENST00000560061.1:c.*211T>C | ENSP00000453254.1:n.*211T>C | |
| NM_001289910.1:c.430T>C , LRG_611t1:c.430T>C | NP_001276839.1:p.Phe144Leu | |
| NM_001290114.1:c.196T>C | NP_001277043.1:p.Phe66Leu | |
| NM_002168.3:c.586T>C , LRG_611t2:c.586T>C | NP_002159.2:p.Phe196Leu | |
| NM_001290114.2:c.196T>C | NP_001277043.1:p.Phe66Leu | |
| NM_002168.4:c.586T>C MANE Select | NP_002159.2:p.Phe196Leu |