Linked Data
dbSNP Id:
rs138782122
ExAC:
7:99358490 T / C
gnomAD v2:
7-99358490-T-C
gnomAD v3:
7-99760867-T-C
gnomAD v4:
7-99760867-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760867T>C , CM000669.2:g.99760867T>C | GRCh38 |
| NC_000007.13:g.99358490T>C , CM000669.1:g.99358490T>C | GRCh37 |
| NC_000007.12:g.99196426T>C | NCBI36 |
| NG_008421.1:g.28319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1461A>G | ENSP00000337915.3:p.Leu487= | |
| ENST00000651162.1:n.803A>G | ||
| ENST00000651514.1:c.1368A>G MANE Select | ENSP00000498939.1:p.Leu456= | |
| ENST00000651783.1:c.909A>G | ENSP00000498924.1:p.Leu303= | |
| ENST00000652018.1:c.1221A>G | ENSP00000498733.1:p.Leu407= | |
| ENST00000336411.6:c.1368A>G | ENSP00000337915.2:p.Leu456= | |
| ENST00000354593.6:c.918A>G | ENSP00000346607.2:p.Leu306= | |
| NM_001202855.2:c.1365A>G | NP_001189784.1:p.Leu455= | |
| NM_017460.5:c.1368A>G | NP_059488.2:p.Leu456= | |
| XM_011515841.1:c.1461A>G | XP_011514143.1:p.Leu487= | |
| XM_011515842.1:c.1458A>G | XP_011514144.1:p.Leu486= | |
| NM_017460.6:c.1368A>G MANE Select | NP_059488.2:p.Leu456= | |
| NM_001202855.3:c.1365A>G | NP_001189784.1:p.Leu455= |