Linked Data
dbSNP Id:
rs368475752
ExAC:
8:144810574 C / T
gnomAD v2:
8-144810574-C-T
gnomAD v3:
8-143728404-C-T
gnomAD v4:
8-143728404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728404C>T , CM000670.2:g.143728404C>T | GRCh38 |
| NC_000008.10:g.144810574C>T , CM000670.1:g.144810574C>T | GRCh37 |
| NC_000008.9:g.144882562C>T | NCBI36 |
| NG_016652.1:g.10341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.1057G>A MANE Select | ENSP00000373565.3:p.Ala353Thr | |
| ENST00000650760.1:c.1660G>A | ENSP00000499217.1:p.Ala554Thr | |
| ENST00000388913.3:c.1057G>A | ENSP00000373565.3:p.Ala353Thr | |
| ENST00000395103.2:c.237G>A | ||
| NM_198488.3:c.1057G>A | NP_940890.3:p.Ala353Thr | |
| XM_005250887.2:c.1114G>A | XP_005250944.1:p.Ala372Thr | |
| XM_005250888.2:c.1075G>A | XP_005250945.1:p.Ala359Thr | |
| XM_005250889.2:c.1057G>A | XP_005250946.1:p.Ala353Thr | |
| XM_011516980.1:c.1378G>A | XP_011515282.1:p.Ala460Thr | |
| XM_011516981.1:c.1225G>A | XP_011515283.1:p.Ala409Thr | |
| XM_005250887.3:c.1114G>A | XP_005250944.1:p.Ala372Thr | |
| XM_005250888.3:c.1075G>A | XP_005250945.1:p.Ala359Thr | |
| XM_005250889.3:c.1057G>A | XP_005250946.1:p.Ala353Thr | |
| XM_011516980.2:c.1660G>A | XP_011515282.2:p.Ala554Thr | |
| XM_011516981.2:c.1225G>A | XP_011515283.1:p.Ala409Thr | |
| XM_024447131.1:c.1057G>A | XP_024302899.1:p.Ala353Thr | |
| NM_198488.4:c.1057G>A | NP_940890.3:p.Ala353Thr | |
| NM_198488.5:c.1057G>A MANE Select | NP_940890.4:p.Ala353Thr |