Linked Data
ClinVar Variation Id:
284662
dbSNP Id:
rs35248744
ExAC:
18:21113475 T / C
gnomAD v2:
18-21113475-T-C
gnomAD v3:
18-23533511-T-C
gnomAD v4:
18-23533511-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23533511T>C , CM000680.2:g.23533511T>C | GRCh38 |
| NC_000018.9:g.21113475T>C , CM000680.1:g.21113475T>C | GRCh37 |
| NC_000018.8:g.19367473T>C | NCBI36 |
| NG_012795.1:g.58107A>G | |
| NG_033119.1:g.35042T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.3598A>G MANE Select | ENSP00000269228.4:p.Ser1200Gly | |
| ENST00000269228.9:c.3598A>G | ENSP00000269228.4:p.Ser1200Gly | |
| ENST00000586150.5:c.353A>G | ||
| ENST00000587163.1:n.122A>G | ||
| ENST00000588867.1:n.1281A>G | ||
| ENST00000590723.5:c.7A>G | ENSP00000464755.1:p.Ser3Gly | |
| ENST00000591051.1:c.2676A>G | ||
| ENST00000591107.6:c.275A>G | ||
| NM_000271.4:c.3598A>G | NP_000262.2:p.Ser1200Gly | |
| XM_005258277.1:c.3649A>G | XP_005258334.1:p.Ser1217Gly | |
| XM_005258278.3:c.3649A>G | XP_005258335.1:p.Ser1217Gly | |
| XM_005258279.1:c.3598A>G | XP_005258336.1:p.Ser1200Gly | |
| XM_006722479.2:c.3649A>G | XP_006722542.1:p.Ser1217Gly | |
| XM_011526015.1:c.3184A>G | XP_011524317.1:p.Ser1062Gly | |
| XM_005258278.5:c.3649A>G | XP_005258335.1:p.Ser1217Gly | |
| XM_005258279.2:c.3598A>G | XP_005258336.1:p.Ser1200Gly | |
| XM_006722479.3:c.3649A>G | XP_006722542.1:p.Ser1217Gly | |
| XM_017025784.1:c.3649A>G | XP_016881273.1:p.Ser1217Gly | |
| XM_017025785.1:c.3649A>G | XP_016881274.1:p.Ser1217Gly | |
| XM_017025786.1:c.3598A>G | XP_016881275.1:p.Ser1200Gly | |
| XM_017025787.1:c.3598A>G | XP_016881276.1:p.Ser1200Gly | |
| NM_000271.5:c.3598A>G MANE Select | NP_000262.2:p.Ser1200Gly |