Linked Data
dbSNP Id:
rs755645246
ExAC:
7:150883868 T / C
gnomAD v2:
7-150883868-T-C
gnomAD v4:
7-151186781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186781T>C , CM000669.2:g.151186781T>C | GRCh38 |
| NC_000007.13:g.150883868T>C , CM000669.1:g.150883868T>C | GRCh37 |
| NC_000007.12:g.150514801T>C | NCBI36 |
| NG_017016.1:g.6052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.316+34A>G MANE Select | ENSP00000391137.2:n.316+34A>G | |
| ENST00000275838.5:c.316+34A>G | ENSP00000275838.1:n.316+34A>G | |
| ENST00000377867.7:c.272-122A>G | ENSP00000367098.3:n.272-122A>G | |
| ENST00000415615.1:c.*360+34A>G | ENSP00000410871.1:n.*360+34A>G | |
| ENST00000420175.2:c.316+34A>G | ENSP00000391137.2:n.316+34A>G | |
| NM_001142459.1:c.316+34A>G | NP_001135931.2:n.316+34A>G | |
| NM_001142460.1:c.316+34A>G | NP_001135932.2:n.316+34A>G | |
| NM_080871.3:c.272-122A>G | NP_543147.2:n.272-122A>G | |
| XM_005249949.3:c.451+34A>G | XP_005250006.1:n.451+34A>G | |
| NM_001142459.2:c.316+34A>G MANE Select | NP_001135931.2:n.316+34A>G | |
| NM_080871.4:c.272-122A>G | NP_543147.2:n.272-122A>G |