Linked Data
dbSNP Id:
rs770808201
ExAC:
18:21118516 A / T
gnomAD v2:
18-21118516-A-T
gnomAD v4:
18-23538552-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538552A>T , CM000680.2:g.23538552A>T | GRCh38 |
| NC_000018.9:g.21118516A>T , CM000680.1:g.21118516A>T | GRCh37 |
| NC_000018.8:g.19372514A>T | NCBI36 |
| NG_012795.1:g.53066T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.3031T>A MANE Select | ENSP00000269228.4:p.Cys1011Ser | |
| ENST00000269228.9:c.3031T>A | ENSP00000269228.4:p.Cys1011Ser | |
| ENST00000591051.1:c.2109T>A | ||
| ENST00000591075.1:n.664T>A | ||
| ENST00000591955.1:n.374T>A | ||
| NM_000271.4:c.3031T>A | NP_000262.2:p.Cys1011Ser | |
| XM_005258277.1:c.3082T>A | XP_005258334.1:p.Cys1028Ser | |
| XM_005258278.3:c.3082T>A | XP_005258335.1:p.Cys1028Ser | |
| XM_005258279.1:c.3031T>A | XP_005258336.1:p.Cys1011Ser | |
| XM_006722479.2:c.3082T>A | XP_006722542.1:p.Cys1028Ser | |
| XM_011526015.1:c.2617T>A | XP_011524317.1:p.Cys873Ser | |
| XM_005258278.5:c.3082T>A | XP_005258335.1:p.Cys1028Ser | |
| XM_005258279.2:c.3031T>A | XP_005258336.1:p.Cys1011Ser | |
| XM_006722479.3:c.3082T>A | XP_006722542.1:p.Cys1028Ser | |
| XM_017025784.1:c.3082T>A | XP_016881273.1:p.Cys1028Ser | |
| XM_017025785.1:c.3082T>A | XP_016881274.1:p.Cys1028Ser | |
| XM_017025786.1:c.3031T>A | XP_016881275.1:p.Cys1011Ser | |
| XM_017025787.1:c.3031T>A | XP_016881276.1:p.Cys1011Ser | |
| NM_000271.5:c.3031T>A MANE Select | NP_000262.2:p.Cys1011Ser |