Linked Data
dbSNP Id:
rs568086497
ExAC:
7:150884027 G / C
gnomAD v2:
7-150884027-G-C
gnomAD v3:
7-151186940-G-C
gnomAD v4:
7-151186940-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186940G>C , CM000669.2:g.151186940G>C | GRCh38 |
| NC_000007.13:g.150884027G>C , CM000669.1:g.150884027G>C | GRCh37 |
| NC_000007.12:g.150514960G>C | NCBI36 |
| NG_017016.1:g.5893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.191C>G MANE Select | ENSP00000391137.2:p.Ala64Gly | |
| ENST00000275838.5:c.191C>G | ENSP00000275838.1:p.Ala64Gly | |
| ENST00000377867.7:c.272-281C>G | ENSP00000367098.3:n.272-281C>G | |
| ENST00000415615.1:c.*235C>G | ENSP00000410871.1:n.*235C>G | |
| ENST00000420175.2:c.191C>G | ENSP00000391137.2:p.Ala64Gly | |
| NM_001142459.1:c.191C>G | NP_001135931.2:p.Ala64Gly | |
| NM_001142460.1:c.191C>G | NP_001135932.2:p.Ala64Gly | |
| NM_080871.3:c.272-281C>G | NP_543147.2:n.272-281C>G | |
| XM_005249949.3:c.326C>G | XP_005250006.1:p.Ala109Gly | |
| NM_001142459.2:c.191C>G MANE Select | NP_001135931.2:p.Ala64Gly | |
| NM_080871.4:c.272-281C>G | NP_543147.2:n.272-281C>G |