Linked Data
dbSNP Id:
rs2074999635
gnomAD v4:
19-34400003-C-T
MyVariant Identifiers:
chr19:g.34890908C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34400003C>T , CM000681.2:g.34400003C>T | GRCh38 |
| NC_000019.9:g.34890908C>T , CM000681.1:g.34890908C>T | GRCh37 |
| NC_000019.8:g.39582748C>T | NCBI36 |
| NG_012838.2:g.40264C>T | |
| NG_012838.3:g.45412C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356487.11:c.1644C>T MANE Select | ENSP00000348877.3:p.Phe548= | |
| ENST00000415930.8:c.1761C>T | ENSP00000405573.3:p.Phe587= | |
| ENST00000586425.2:c.1310C>T | ||
| ENST00000588991.7:c.1677C>T | ENSP00000465858.3:p.Phe559= | |
| ENST00000643067.1:n.2689C>T | ||
| ENST00000647446.1:c.*695C>T | ENSP00000495129.1:n.*695C>T | |
| ENST00000356487.9:c.1644C>T | ENSP00000348877.3:p.Phe548= | |
| ENST00000415930.7:c.1677C>T | ENSP00000405573.2:p.Phe559= | |
| ENST00000586077.1:n.2721C>T | ||
| ENST00000586392.1:n.1382C>T | ||
| ENST00000586425.1:c.*76C>T | ENSP00000467670.2:n.*76C>T | |
| ENST00000588991.6:c.1689C>T | ENSP00000465858.2:p.Phe563= | |
| ENST00000592740.5:c.193+3346C>T | ||
| NM_000175.3:c.1644C>T | NP_000166.2:p.Phe548= | |
| NM_001184722.1:c.1677C>T | NP_001171651.1:p.Phe559= | |
| NM_001289789.1:c.1761C>T | NP_001276718.1:p.Phe587= | |
| NM_001289790.1:c.1560C>T | NP_001276719.1:p.Phe520= | |
| XM_005258764.1:c.1644C>T | XP_005258821.1:p.Phe548= | |
| XM_006723148.1:c.1644C>T | XP_006723211.1:p.Phe548= | |
| XM_011526754.1:c.1761C>T | XP_011525056.1:p.Phe587= | |
| NM_000175.5:c.1644C>T MANE Select | NP_000166.2:p.Phe548= | |
| NM_001289790.2:c.1560C>T | NP_001276719.1:p.Phe520= | |
| NM_001329909.1:c.1644C>T | NP_001316838.1:p.Phe548= | |
| NM_001329910.1:c.1644C>T | NP_001316839.1:p.Phe548= | |
| NM_001329911.1:c.1617C>T | NP_001316840.1:p.Phe539= | |
| XM_011526754.3:c.1761C>T | XP_011525056.1:p.Phe587= | |
| NM_001289790.3:c.1560C>T | NP_001276719.1:p.Phe520= | |
| NM_001329911.2:c.1617C>T | NP_001316840.1:p.Phe539= |