Linked Data
dbSNP Id:
rs775511509
ExAC:
1:161643759 C / T
gnomAD v2:
1-161643759-C-T
gnomAD v4:
1-161673969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161673969C>T , CM000663.2:g.161673969C>T | GRCh38 |
| NC_000001.10:g.161643759C>T , CM000663.1:g.161643759C>T | GRCh37 |
| NC_000001.9:g.159910383C>T | NCBI36 |
| NG_023318.1:g.15855C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358671.10:c.656C>T MANE Select | ENSP00000351497.5:p.Ser219Phe | |
| ENST00000236937.13:c.656C>T | ENSP00000236937.9:p.Ser219Phe | |
| ENST00000358671.9:c.656C>T | ENSP00000351497.5:p.Ser219Phe | |
| ENST00000367961.8:c.635C>T | ENSP00000356938.4:p.Ser212Phe | |
| ENST00000428605.3:c.656C>T | ENSP00000404329.3:p.Ser219Phe | |
| ENST00000480308.5:n.706C>T | ||
| ENST00000485778.1:n.2024C>T | ||
| NM_001002273.2:c.653C>T | NP_001002273.1:p.Ser218Phe | |
| NM_001002274.2:c.656C>T | NP_001002274.1:p.Ser219Phe | |
| NM_001002275.2:c.653C>T | NP_001002275.1:p.Ser218Phe | |
| NM_001190828.1:c.635C>T | NP_001177757.1:p.Ser212Phe | |
| NM_004001.4:c.656C>T | NP_003992.3:p.Ser219Phe | |
| XM_017000670.2:c.653C>T | XP_016856159.1:p.Ser218Phe | |
| XM_024454043.1:c.656C>T | XP_024309811.1:p.Ser219Phe | |
| XM_024454044.1:c.653C>T | XP_024309812.1:p.Ser218Phe | |
| XM_024454045.1:c.653C>T | XP_024309813.1:p.Ser218Phe | |
| NM_001002273.3:c.653C>T | NP_001002273.1:p.Ser218Phe | |
| NM_001002274.3:c.656C>T | NP_001002274.1:p.Ser219Phe | |
| NM_001002275.3:c.653C>T | NP_001002275.1:p.Ser218Phe | |
| NM_001190828.2:c.635C>T | NP_001177757.1:p.Ser212Phe | |
| NM_001386000.1:c.632C>T | NP_001372929.1:p.Ser211Phe | |
| NM_001386001.1:c.635C>T | NP_001372930.1:p.Ser212Phe | |
| NM_001386002.1:c.632C>T | NP_001372931.1:p.Ser211Phe | |
| NM_001386003.1:c.656C>T | NP_001372932.1:p.Ser219Phe | |
| NM_001386004.1:c.632C>T | NP_001372933.1:p.Ser211Phe | |
| NM_001386005.1:c.656C>T | NP_001372934.1:p.Ser219Phe | |
| NM_001386006.1:c.635C>T | NP_001372935.1:p.Ser212Phe | |
| NM_004001.5:c.656C>T | NP_003992.3:p.Ser219Phe | |
| NR_169827.1:n.885C>T | ||
| NM_001394477.1:c.656C>T MANE Select | NP_001381406.1:p.Ser219Phe |