Linked Data
ClinVar Variation Id:
21142
dbSNP Id:
rs80358251
ExAC:
18:21140367 G / A
gnomAD v2:
18-21140367-G-A
gnomAD v3:
18-23560403-G-A
gnomAD v4:
18-23560403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23560403G>A , CM000680.2:g.23560403G>A | GRCh38 |
| NC_000018.9:g.21140367G>A , CM000680.1:g.21140367G>A | GRCh37 |
| NC_000018.8:g.19394365G>A | NCBI36 |
| NG_012795.1:g.31215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.709C>T MANE Select | ENSP00000269228.4:p.Pro237Ser | |
| ENST00000269228.9:c.709C>T | ENSP00000269228.4:p.Pro237Ser | |
| ENST00000540608.5:n.623C>T | ||
| NM_000271.4:c.709C>T | NP_000262.2:p.Pro237Ser | |
| XM_005258277.1:c.709C>T | XP_005258334.1:p.Pro237Ser | |
| XM_005258278.3:c.709C>T | XP_005258335.1:p.Pro237Ser | |
| XM_005258279.1:c.709C>T | XP_005258336.1:p.Pro237Ser | |
| XM_006722479.2:c.709C>T | XP_006722542.1:p.Pro237Ser | |
| XM_011526015.1:c.244C>T | XP_011524317.1:p.Pro82Ser | |
| XM_005258278.5:c.709C>T | XP_005258335.1:p.Pro237Ser | |
| XM_005258279.2:c.709C>T | XP_005258336.1:p.Pro237Ser | |
| XM_006722479.3:c.709C>T | XP_006722542.1:p.Pro237Ser | |
| XM_017025784.1:c.709C>T | XP_016881273.1:p.Pro237Ser | |
| XM_017025785.1:c.709C>T | XP_016881274.1:p.Pro237Ser | |
| XM_017025786.1:c.709C>T | XP_016881275.1:p.Pro237Ser | |
| XM_017025787.1:c.709C>T | XP_016881276.1:p.Pro237Ser | |
| NM_000271.5:c.709C>T MANE Select | NP_000262.2:p.Pro237Ser |