Linked Data
dbSNP Id:
rs569659982
gnomAD v2:
1-173880866-G-C
gnomAD v3:
1-173911728-G-C
gnomAD v4:
1-173911728-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911728G>C , CM000663.2:g.173911728G>C | GRCh38 |
| NC_000001.10:g.173880866G>C , CM000663.1:g.173880866G>C | GRCh37 |
| NC_000001.9:g.172147489G>C | NCBI36 |
| NG_012462.1:g.10651C>G , LRG_577:g.10651C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.624+71C>G MANE Select | ENSP00000356671.3:n.624+71C>G | |
| ENST00000367698.3:c.624+71C>G | ENSP00000356671.3:n.624+71C>G | |
| ENST00000487183.1:n.329+71C>G | ||
| ENST00000617423.4:c.559+136C>G | ENSP00000478688.1:n.559+136C>G | |
| NM_000488.3:c.624+71C>G , LRG_577t1:c.624+71C>G | NP_000479.1:n.624+71C>G | |
| XM_005245198.2:c.480+71C>G | XP_005245255.1:n.480+71C>G | |
| NM_001365052.1:c.480+71C>G | NP_001351981.1:n.480+71C>G | |
| NM_000488.4:c.624+71C>G MANE Select | NP_000479.1:n.624+71C>G | |
| NM_001365052.2:c.480+71C>G | NP_001351981.1:n.480+71C>G | |
| NM_001386302.1:c.624+71C>G | NP_001373231.1:n.624+71C>G | |
| NM_001386303.1:c.705+71C>G | NP_001373232.1:n.705+71C>G | |
| NM_001386304.1:c.624+71C>G | NP_001373233.1:n.624+71C>G | |
| NM_001386305.1:c.624+71C>G | NP_001373234.1:n.624+71C>G | |
| NM_001386306.1:c.409-837C>G | NP_001373235.1:n.409-837C>G |