Linked Data
dbSNP Id:
rs775250202
ExAC:
1:43804391 G / C
gnomAD v2:
1-43804391-G-C
gnomAD v4:
1-43338720-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338720G>C , CM000663.2:g.43338720G>C | GRCh38 |
| NC_000001.10:g.43804391G>C , CM000663.1:g.43804391G>C | GRCh37 |
| NC_000001.9:g.43576978G>C | NCBI36 |
| NG_007525.1:g.5917G>C , LRG_510:g.5917G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.391G>C MANE Select | ENSP00000361548.3:p.Gly131Arg | |
| ENST00000413998.7:c.370G>C | ENSP00000414004.3:p.Gly124Arg | |
| ENST00000638732.1:n.391G>C | ||
| ENST00000372470.7:c.391G>C | ENSP00000361548.3:p.Gly131Arg | |
| ENST00000413998.6:c.391G>C | ENSP00000414004.2:p.Gly131Arg | |
| ENST00000612993.1:c.391G>C | ENSP00000480273.1:p.Gly131Arg | |
| NM_005373.2:c.391G>C , LRG_510t1:c.391G>C | NP_005364.1:p.Gly131Arg | |
| XM_011541478.1:c.370G>C | XP_011539780.1:p.Gly124Arg | |
| XM_017001320.1:c.562G>C | XP_016856809.1:p.Gly188Arg | |
| NM_005373.3:c.391G>C MANE Select | NP_005364.1:p.Gly131Arg |