Linked Data
dbSNP Id:
rs755808418
ExAC:
1:173878821 T / C
gnomAD v2:
1-173878821-T-C
gnomAD v4:
1-173909683-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909683T>C , CM000663.2:g.173909683T>C | GRCh38 |
| NC_000001.10:g.173878821T>C , CM000663.1:g.173878821T>C | GRCh37 |
| NC_000001.9:g.172145444T>C | NCBI36 |
| NG_012462.1:g.12696A>G , LRG_577:g.12696A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1022A>G MANE Select | ENSP00000356671.3:p.Asp341Gly | |
| ENST00000367698.3:c.1022A>G | ENSP00000356671.3:p.Asp341Gly | |
| ENST00000617423.4:c.559+2181A>G | ENSP00000478688.1:n.559+2181A>G | |
| NM_000488.3:c.1022A>G , LRG_577t1:c.1022A>G | NP_000479.1:p.Asp341Gly | |
| XM_005245198.2:c.878A>G | XP_005245255.1:p.Asp293Gly | |
| NM_001365052.1:c.878A>G | NP_001351981.1:p.Asp293Gly | |
| NM_000488.4:c.1022A>G MANE Select | NP_000479.1:p.Asp341Gly | |
| NM_001365052.2:c.878A>G | NP_001351981.1:p.Asp293Gly | |
| NM_001386302.1:c.1145A>G | NP_001373231.1:p.Asp382Gly | |
| NM_001386303.1:c.1103A>G | NP_001373232.1:p.Asp368Gly | |
| NM_001386304.1:c.1001A>G | NP_001373233.1:p.Asp334Gly | |
| NM_001386305.1:c.965A>G | NP_001373234.1:p.Asp322Gly | |
| NM_001386306.1:c.806A>G | NP_001373235.1:p.Asp269Gly |