Linked Data
dbSNP Id:
rs773521684
ExAC:
2:157435425 T / C
gnomAD v2:
2-157435425-T-C
gnomAD v4:
2-156578913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156578913T>C , CM000664.2:g.156578913T>C | GRCh38 |
| NC_000002.11:g.157435425T>C , CM000664.1:g.157435425T>C | GRCh37 |
| NC_000002.10:g.157143671T>C | NCBI36 |
| NG_016606.1:g.148461T>C | |
| NG_016606.2:g.148461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1792T>C MANE Select | ENSP00000409708.2:p.Phe598Leu | |
| ENST00000310454.10:c.1792T>C | ENSP00000308610.5:p.Phe598Leu | |
| ENST00000409125.8:c.1414T>C | ENSP00000386484.5:p.Phe472Leu | |
| ENST00000409674.5:c.1792T>C | ENSP00000386425.1:p.Phe598Leu | |
| ENST00000409861.5:c.1792T>C | ENSP00000386626.1:p.Phe598Leu | |
| ENST00000438166.6:c.1792T>C | ENSP00000409708.2:p.Phe598Leu | |
| ENST00000464846.5:n.146T>C | ||
| ENST00000540309.5:c.1135-173T>C | ENSP00000440892.1:n.1135-173T>C | |
| NM_000408.4:c.1792T>C | NP_000399.3:p.Phe598Leu | |
| NM_001083112.2:c.1792T>C | NP_001076581.2:p.Phe598Leu | |
| XM_005246469.1:c.1792T>C | XP_005246526.1:p.Phe598Leu | |
| XM_005246470.3:c.1690T>C | XP_005246527.1:p.Phe564Leu | |
| XM_011510977.1:c.1792T>C | XP_011509279.1:p.Phe598Leu | |
| XM_011510978.1:c.1690T>C | XP_011509280.1:p.Phe564Leu | |
| XM_011510979.1:c.1414T>C | XP_011509281.1:p.Phe472Leu | |
| XM_011510980.1:c.1111T>C | XP_011509282.1:p.Phe371Leu | |
| XM_005246469.2:c.1792T>C | XP_005246526.1:p.Phe598Leu | |
| XM_011510977.2:c.1792T>C | XP_011509279.1:p.Phe598Leu | |
| XM_011510978.2:c.1690T>C | XP_011509280.1:p.Phe564Leu | |
| XM_017003830.1:c.1792T>C | XP_016859319.1:p.Phe598Leu | |
| XM_024452798.1:c.1792T>C | XP_024308566.1:p.Phe598Leu | |
| NM_000408.5:c.1792T>C MANE Select | NP_000399.3:p.Phe598Leu | |
| NM_001083112.3:c.1792T>C | NP_001076581.2:p.Phe598Leu |