Linked Data
dbSNP Id:
rs759561777
ExAC:
1:16351328 T / C
gnomAD v2:
1-16351328-T-C
gnomAD v3:
1-16024833-T-C
gnomAD v4:
1-16024833-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024833T>C , CM000663.2:g.16024833T>C | GRCh38 |
| NC_000001.10:g.16351328T>C , CM000663.1:g.16351328T>C | GRCh37 |
| NC_000001.9:g.16223915T>C | NCBI36 |
| NG_009359.1:g.7843T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.300T>C MANE Select | ENSP00000332771.4:p.Pro100= | |
| ENST00000331433.4:c.300T>C | ENSP00000332771.4:p.Pro100= | |
| ENST00000375692.5:c.300T>C | ENSP00000364844.1:p.Pro100= | |
| ENST00000439316.6:c.229+905T>C | ENSP00000414445.2:n.229+905T>C | |
| ENST00000464764.5:n.889-26T>C | ||
| ENST00000495784.1:n.458T>C | ||
| NM_001042704.1:c.300T>C | NP_001036169.1:p.Pro100= | |
| NM_001257139.1:c.229+905T>C | NP_001244068.1:n.229+905T>C | |
| NM_004070.3:c.300T>C | NP_004061.3:p.Pro100= | |
| NM_004070.4:c.300T>C MANE Select | NP_004061.3:p.Pro100= | |
| NM_001042704.2:c.300T>C | NP_001036169.1:p.Pro100= | |
| NM_001257139.2:c.229+905T>C | NP_001244068.1:n.229+905T>C |