Linked Data
dbSNP Id:
rs746635809
ExAC:
7:99365984 G / A
gnomAD v2:
7-99365984-G-A
gnomAD v3:
7-99768361-G-A
gnomAD v4:
7-99768361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768361G>A , CM000669.2:g.99768361G>A | GRCh38 |
| NC_000007.13:g.99365984G>A , CM000669.1:g.99365984G>A | GRCh37 |
| NC_000007.12:g.99203920G>A | NCBI36 |
| NG_008421.1:g.20825C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.663C>T | ENSP00000337915.3:p.Leu221= | |
| ENST00000651514.1:c.663C>T MANE Select | ENSP00000498939.1:p.Leu221= | |
| ENST00000651783.1:c.204C>T | ENSP00000498924.1:p.Leu68= | |
| ENST00000652018.1:c.516C>T | ENSP00000498733.1:p.Leu172= | |
| ENST00000336411.6:c.663C>T | ENSP00000337915.2:p.Leu221= | |
| ENST00000354593.6:c.213C>T | ENSP00000346607.2:p.Leu71= | |
| NM_001202855.2:c.663C>T | NP_001189784.1:p.Leu221= | |
| NM_017460.5:c.663C>T | NP_059488.2:p.Leu221= | |
| XM_011515841.1:c.663C>T | XP_011514143.1:p.Leu221= | |
| XM_011515842.1:c.663C>T | XP_011514144.1:p.Leu221= | |
| NM_017460.6:c.663C>T MANE Select | NP_059488.2:p.Leu221= | |
| NM_001202855.3:c.663C>T | NP_001189784.1:p.Leu221= |