Linked Data
dbSNP Id:
rs1490873893
gnomAD v2:
9-140130740-T-C
gnomAD v3:
9-137236288-T-C
gnomAD v4:
9-137236288-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137236288T>C , CM000671.2:g.137236288T>C | GRCh38 |
| NC_000009.11:g.140130740T>C , CM000671.1:g.140130740T>C | GRCh37 |
| NC_000009.10:g.139250561T>C | NCBI36 |
| NG_017008.1:g.10532T>C | |
| NG_017008.2:g.10388T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.1672T>C MANE Select | ENSP00000501114.1:p.Ser558Pro | |
| ENST00000361134.2:c.1672T>C | ENSP00000355353.2:p.Ser558Pro | |
| ENST00000538474.5:c.1672T>C | ENSP00000442397.1:p.Ser558Pro | |
| NM_001177316.1:c.1672T>C | NP_001170787.1:p.Ser558Pro | |
| NM_001177317.1:c.1672T>C | NP_001170788.1:p.Ser558Pro | |
| NM_080877.2:c.1672T>C | NP_543153.1:p.Ser558Pro | |
| XM_017014292.1:c.1672T>C | XP_016869781.1:p.Ser558Pro | |
| NM_001177316.2:c.1672T>C MANE Select | NP_001170787.2:p.Ser558Pro | |
| NM_001177317.2:c.1672T>C | NP_001170788.2:p.Ser558Pro | |
| NM_080877.3:c.1672T>C | NP_543153.2:p.Ser558Pro |