Linked Data
dbSNP Id:
rs748251829
ExAC:
1:173873052 C / T
gnomAD v2:
1-173873052-C-T
gnomAD v3:
1-173903914-C-T
gnomAD v4:
1-173903914-C-T
COSMIC:
COSM3478546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903914C>T , CM000663.2:g.173903914C>T | GRCh38 |
| NC_000001.10:g.173873052C>T , CM000663.1:g.173873052C>T | GRCh37 |
| NC_000001.9:g.172139675C>T | NCBI36 |
| NG_012462.1:g.18465G>A , LRG_577:g.18465G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1370G>A MANE Select | ENSP00000356671.3:p.Arg457Lys | |
| ENST00000367698.3:c.1370G>A | ENSP00000356671.3:p.Arg457Lys | |
| ENST00000617423.4:c.755G>A | ENSP00000478688.1:p.Arg252Lys | |
| NM_000488.3:c.1370G>A , LRG_577t1:c.1370G>A | NP_000479.1:p.Arg457Lys | |
| XM_005245198.2:c.1226G>A | XP_005245255.1:p.Arg409Lys | |
| NM_001365052.1:c.1226G>A | NP_001351981.1:p.Arg409Lys | |
| NM_000488.4:c.1370G>A MANE Select | NP_000479.1:p.Arg457Lys | |
| NM_001365052.2:c.1226G>A | NP_001351981.1:p.Arg409Lys | |
| NM_001386302.1:c.1493G>A | NP_001373231.1:p.Arg498Lys | |
| NM_001386303.1:c.1451G>A | NP_001373232.1:p.Arg484Lys | |
| NM_001386304.1:c.1349G>A | NP_001373233.1:p.Arg450Lys | |
| NM_001386305.1:c.1313G>A | NP_001373234.1:p.Arg438Lys | |
| NM_001386306.1:c.1154G>A | NP_001373235.1:p.Arg385Lys |