Linked Data
dbSNP Id:
rs147249395
gnomAD v2:
1-173879207-A-C
gnomAD v3:
1-173910069-A-C
gnomAD v4:
1-173910069-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173910069A>C , CM000663.2:g.173910069A>C | GRCh38 |
| NC_000001.10:g.173879207A>C , CM000663.1:g.173879207A>C | GRCh37 |
| NC_000001.9:g.172145830A>C | NCBI36 |
| NG_012462.1:g.12310T>G , LRG_577:g.12310T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.763-127T>G MANE Select | ENSP00000356671.3:n.763-127T>G | |
| ENST00000367698.3:c.763-127T>G | ENSP00000356671.3:n.763-127T>G | |
| ENST00000487183.1:n.414-127T>G | ||
| ENST00000617423.4:c.559+1795T>G | ENSP00000478688.1:n.559+1795T>G | |
| NM_000488.3:c.763-127T>G , LRG_577t1:c.763-127T>G | NP_000479.1:n.763-127T>G | |
| XM_005245198.2:c.619-127T>G | XP_005245255.1:n.619-127T>G | |
| NM_001365052.1:c.619-127T>G | NP_001351981.1:n.619-127T>G | |
| NM_000488.4:c.763-127T>G MANE Select | NP_000479.1:n.763-127T>G | |
| NM_001365052.2:c.619-127T>G | NP_001351981.1:n.619-127T>G | |
| NM_001386302.1:c.886-127T>G | NP_001373231.1:n.886-127T>G | |
| NM_001386303.1:c.844-127T>G | NP_001373232.1:n.844-127T>G | |
| NM_001386304.1:c.742-127T>G | NP_001373233.1:n.742-127T>G | |
| NM_001386305.1:c.763-184T>G | NP_001373234.1:n.763-184T>G | |
| NM_001386306.1:c.547-127T>G | NP_001373235.1:n.547-127T>G |