Linked Data
dbSNP Id:
rs758658319
ExAC:
5:73981284 C / T
gnomAD v2:
5-73981284-C-T
gnomAD v3:
5-74685459-C-T
gnomAD v4:
5-74685459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685459C>T , CM000667.2:g.74685459C>T | GRCh38 |
| NC_000005.9:g.73981284C>T , CM000667.1:g.73981284C>T | GRCh37 |
| NC_000005.8:g.74017040C>T | NCBI36 |
| NG_009770.1:g.5316C>T | |
| NG_009770.2:g.50437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.199C>T MANE Select | ENSP00000261416.7:p.Pro67Ser | |
| ENST00000261416.11:c.199C>T | ENSP00000261416.7:p.Pro67Ser | |
| ENST00000511181.5:c.-376-3869C>T | ENSP00000426285.1:n.-376-3869C>T | |
| ENST00000513079.5:n.264C>T | ||
| ENST00000515528.1:n.254C>T | ||
| NM_000521.3:c.199C>T | NP_000512.1:p.Pro67Ser | |
| NM_001292004.1:c.-376-3869C>T | NP_001278933.1:n.-376-3869C>T | |
| NM_000521.4:c.199C>T MANE Select | NP_000512.2:p.Pro67Ser | |
| NM_001292004.2:c.-376-3869C>T | NP_001278933.1:n.-376-3869C>T |