Linked Data
dbSNP Id:
rs1489199728
gnomAD v2:
8-48765308-T-G
gnomAD v3:
8-47852747-T-G
gnomAD v4:
8-47852747-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47852747T>G , CM000670.2:g.47852747T>G | GRCh38 |
| NC_000008.10:g.48765308T>G , CM000670.1:g.48765308T>G | GRCh37 |
| NC_000008.9:g.48927861T>G | NCBI36 |
| NG_023435.1:g.112437A>C , LRG_162:g.112437A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.6931A>C MANE Select | ENSP00000313420.3:p.Arg2311= | |
| ENST00000314191.6:c.6931A>C | ENSP00000313420.3:p.Arg2311= | |
| ENST00000338368.7:c.6931A>C | ENSP00000345182.4:p.Arg2311= | |
| NM_001081640.1:c.6931A>C | NP_001075109.1:p.Arg2311= | |
| NM_006904.6:c.6931A>C , LRG_162t1:c.6931A>C | NP_008835.5:p.Arg2311= | |
| XM_011517567.1:c.6931A>C | XP_011515869.1:p.Arg2311= | |
| XM_011517568.1:c.6931A>C | XP_011515870.1:p.Arg2311= | |
| NM_001081640.2:c.6931A>C | NP_001075109.1:p.Arg2311= | |
| NM_006904.7:c.6931A>C MANE Select | NP_008835.5:p.Arg2311= |