Linked Data
dbSNP Id:
rs781757638
ExAC:
2:157435497 C / T
gnomAD v2:
2-157435497-C-T
gnomAD v4:
2-156578985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156578985C>T , CM000664.2:g.156578985C>T | GRCh38 |
| NC_000002.11:g.157435497C>T , CM000664.1:g.157435497C>T | GRCh37 |
| NC_000002.10:g.157143743C>T | NCBI36 |
| NG_016606.1:g.148533C>T | |
| NG_016606.2:g.148533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1864C>T MANE Select | ENSP00000409708.2:p.Pro622Ser | |
| ENST00000310454.10:c.1864C>T | ENSP00000308610.5:p.Pro622Ser | |
| ENST00000409125.8:c.1486C>T | ENSP00000386484.5:p.Pro496Ser | |
| ENST00000409674.5:c.1864C>T | ENSP00000386425.1:p.Pro622Ser | |
| ENST00000409861.5:c.1864C>T | ENSP00000386626.1:p.Pro622Ser | |
| ENST00000438166.6:c.1864C>T | ENSP00000409708.2:p.Pro622Ser | |
| ENST00000464846.5:n.218C>T | ||
| ENST00000540309.5:c.1135-101C>T | ENSP00000440892.1:n.1135-101C>T | |
| NM_000408.4:c.1864C>T | NP_000399.3:p.Pro622Ser | |
| NM_001083112.2:c.1864C>T | NP_001076581.2:p.Pro622Ser | |
| XM_005246469.1:c.1864C>T | XP_005246526.1:p.Pro622Ser | |
| XM_005246470.3:c.1762C>T | XP_005246527.1:p.Pro588Ser | |
| XM_011510977.1:c.1864C>T | XP_011509279.1:p.Pro622Ser | |
| XM_011510978.1:c.1762C>T | XP_011509280.1:p.Pro588Ser | |
| XM_011510979.1:c.1486C>T | XP_011509281.1:p.Pro496Ser | |
| XM_011510980.1:c.1183C>T | XP_011509282.1:p.Pro395Ser | |
| XM_005246469.2:c.1864C>T | XP_005246526.1:p.Pro622Ser | |
| XM_011510977.2:c.1864C>T | XP_011509279.1:p.Pro622Ser | |
| XM_011510978.2:c.1762C>T | XP_011509280.1:p.Pro588Ser | |
| XM_017003830.1:c.1864C>T | XP_016859319.1:p.Pro622Ser | |
| XM_024452798.1:c.1864C>T | XP_024308566.1:p.Pro622Ser | |
| NM_000408.5:c.1864C>T MANE Select | NP_000399.3:p.Pro622Ser | |
| NM_001083112.3:c.1864C>T | NP_001076581.2:p.Pro622Ser |