Linked Data
dbSNP Id:
rs1196679834
gnomAD v2:
18-21140351-T-G
gnomAD v3:
18-23560387-T-G
gnomAD v4:
18-23560387-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23560387T>G , CM000680.2:g.23560387T>G | GRCh38 |
| NC_000018.9:g.21140351T>G , CM000680.1:g.21140351T>G | GRCh37 |
| NC_000018.8:g.19394349T>G | NCBI36 |
| NG_012795.1:g.31231A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.725A>C MANE Select | ENSP00000269228.4:p.Asp242Ala | |
| ENST00000269228.9:c.725A>C | ENSP00000269228.4:p.Asp242Ala | |
| ENST00000540608.5:n.639A>C | ||
| NM_000271.4:c.725A>C | NP_000262.2:p.Asp242Ala | |
| XM_005258277.1:c.725A>C | XP_005258334.1:p.Asp242Ala | |
| XM_005258278.3:c.725A>C | XP_005258335.1:p.Asp242Ala | |
| XM_005258279.1:c.725A>C | XP_005258336.1:p.Asp242Ala | |
| XM_006722479.2:c.725A>C | XP_006722542.1:p.Asp242Ala | |
| XM_011526015.1:c.260A>C | XP_011524317.1:p.Asp87Ala | |
| XM_005258278.5:c.725A>C | XP_005258335.1:p.Asp242Ala | |
| XM_005258279.2:c.725A>C | XP_005258336.1:p.Asp242Ala | |
| XM_006722479.3:c.725A>C | XP_006722542.1:p.Asp242Ala | |
| XM_017025784.1:c.725A>C | XP_016881273.1:p.Asp242Ala | |
| XM_017025785.1:c.725A>C | XP_016881274.1:p.Asp242Ala | |
| XM_017025786.1:c.725A>C | XP_016881275.1:p.Asp242Ala | |
| XM_017025787.1:c.725A>C | XP_016881276.1:p.Asp242Ala | |
| NM_000271.5:c.725A>C MANE Select | NP_000262.2:p.Asp242Ala |