Linked Data
dbSNP Id:
rs1844878750
gnomAD v4:
9-130433357-C-T
MyVariant Identifiers:
chr9:g.133308744C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433357C>T , CM000671.2:g.130433357C>T | GRCh38 |
| NC_000009.11:g.133308744C>T , CM000671.1:g.133308744C>T | GRCh37 |
| NC_000009.10:g.132298565C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14847C>T | ENSP00000485357.2:p.Phe4949= | |
| ENST00000683500.2:c.14904C>T MANE Select | ENSP00000508292.2:p.Phe4968= | |
| ENST00000623487.1:n.3250C>T | ||
| ENST00000624552.3:c.14844C>T | ENSP00000485357.1:p.Phe4948= | |
| NM_001291815.1:c.14904C>T | NP_001278744.1:p.Phe4968= | |
| XM_011518465.1:c.14781C>T | XP_011516767.1:p.Phe4927= | |
| XM_011518466.1:c.14772C>T | XP_011516768.1:p.Phe4924= | |
| XM_011518467.1:c.14727C>T | XP_011516769.1:p.Phe4909= | |
| NM_001291815.2:c.14904C>T MANE Select | NP_001278744.1:p.Phe4968= | |
| XM_011518465.2:c.14781C>T | XP_011516767.1:p.Phe4927= | |
| XM_011518466.2:c.14772C>T | XP_011516768.1:p.Phe4924= | |
| XM_011518467.2:c.14727C>T | XP_011516769.1:p.Phe4909= | |
| XM_017014585.1:c.11685C>T | XP_016870074.1:p.Phe3895= | |
| XM_017014586.1:c.7482C>T | XP_016870075.1:p.Phe2494= | |
| XR_001746957.1:n.92+264G>A | ||
| XR_001746958.1:n.92+264G>A |