Linked Data
dbSNP Id:
rs139463995
ExAC:
1:173878985 C / G
gnomAD v2:
1-173878985-C-G
gnomAD v3:
1-173909847-C-G
gnomAD v4:
1-173909847-C-G
ERepo:
CA1251327/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909847C>G , CM000663.2:g.173909847C>G | GRCh38 |
| NC_000001.10:g.173878985C>G , CM000663.1:g.173878985C>G | GRCh37 |
| NC_000001.9:g.172145608C>G | NCBI36 |
| NG_012462.1:g.12532G>C , LRG_577:g.12532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.858G>C MANE Select | ENSP00000356671.3:p.Gln286His | |
| ENST00000367698.3:c.858G>C | ENSP00000356671.3:p.Gln286His | |
| ENST00000487183.1:n.509G>C | ||
| ENST00000617423.4:c.559+2017G>C | ENSP00000478688.1:n.559+2017G>C | |
| NM_000488.3:c.858G>C , LRG_577t1:c.858G>C | NP_000479.1:p.Gln286His | |
| XM_005245198.2:c.714G>C | XP_005245255.1:p.Gln238His | |
| NM_001365052.1:c.714G>C | NP_001351981.1:p.Gln238His | |
| NM_000488.4:c.858G>C MANE Select | NP_000479.1:p.Gln286His | |
| NM_001365052.2:c.714G>C | NP_001351981.1:p.Gln238His | |
| NM_001386302.1:c.981G>C | NP_001373231.1:p.Gln327His | |
| NM_001386303.1:c.939G>C | NP_001373232.1:p.Gln313His | |
| NM_001386304.1:c.837G>C | NP_001373233.1:p.Gln279His | |
| NM_001386305.1:c.801G>C | NP_001373234.1:p.Gln267His | |
| NM_001386306.1:c.642G>C | NP_001373235.1:p.Gln214His |