Linked Data
ClinVar Variation Id:
324043
dbSNP Id:
rs758813493
ExAC:
17:48246516 C / T
gnomAD v2:
17-48246516-C-T
gnomAD v3:
17-50169155-C-T
gnomAD v4:
17-50169155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169155C>T , CM000679.2:g.50169155C>T | GRCh38 |
| NC_000017.10:g.48246516C>T , CM000679.1:g.48246516C>T | GRCh37 |
| NC_000017.9:g.45601515C>T | NCBI36 |
| NG_008889.1:g.8151C>T , LRG_203:g.8151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+51C>T | ENSP00000422030.2:n.597+51C>T | |
| ENST00000511303.6:n.309+583C>T | ||
| ENST00000512526.2:c.575+583C>T | ENSP00000426606.2:n.575+583C>T | |
| ENST00000682109.1:c.528C>T | ENSP00000508041.1:p.Pro176= | |
| ENST00000683226.1:n.358C>T | ||
| ENST00000683294.1:c.648C>T | ENSP00000508134.1:p.Pro216= | |
| ENST00000262018.8:c.648C>T MANE Select | ENSP00000262018.3:p.Pro216= | |
| ENST00000262018.7:c.648C>T | ENSP00000262018.3:p.Pro216= | |
| ENST00000344627.10:c.584+583C>T | ENSP00000345522.6:n.584+583C>T | |
| ENST00000502555.5:c.*307C>T | ENSP00000422817.1:n.*307C>T | |
| ENST00000504073.1:c.64+51C>T | ||
| ENST00000511303.5:c.305+583C>T | ENSP00000426104.1:n.305+583C>T | |
| ENST00000512526.1:c.419+583C>T | ||
| ENST00000513821.5:c.648C>T | ENSP00000426571.1:p.Pro216= | |
| ENST00000513942.5:n.375+583C>T | ||
| NM_000023.2:c.648C>T , LRG_203t1:c.648C>T | NP_000014.1:p.Pro216= | |
| NM_001135697.1:c.584+583C>T | NP_001129169.1:n.584+583C>T | |
| XM_011525120.1:c.648C>T | XP_011523422.1:p.Pro216= | |
| XM_011525121.1:c.597+51C>T | XP_011523423.1:n.597+51C>T | |
| XM_011525122.1:c.648C>T | XP_011523424.1:p.Pro216= | |
| XM_011525123.1:c.584+583C>T | XP_011523425.1:n.584+583C>T | |
| XM_011525124.1:c.342C>T | XP_011523426.1:p.Pro114= | |
| XR_934517.1:n.714C>T | ||
| NM_000023.3:c.648C>T | NP_000014.1:p.Pro216= | |
| NM_001135697.2:c.584+583C>T | NP_001129169.1:n.584+583C>T | |
| NR_135553.1:n.704C>T | ||
| XM_011525120.2:c.810C>T | XP_011523422.2:p.Pro270= | |
| XM_011525121.2:c.759+51C>T | XP_011523423.2:n.759+51C>T | |
| XM_011525122.2:c.810C>T | XP_011523424.2:p.Pro270= | |
| XM_011525123.2:c.746+583C>T | XP_011523425.2:n.746+583C>T | |
| XM_011525124.2:c.342C>T | XP_011523426.1:p.Pro114= | |
| XM_024450873.1:c.342C>T | XP_024306641.1:p.Pro114= | |
| XR_002958056.1:n.1166C>T | ||
| NM_000023.4:c.648C>T MANE Select | NP_000014.1:p.Pro216= | |
| NM_001135697.3:c.584+583C>T | NP_001129169.1:n.584+583C>T | |
| NR_135553.2:n.684C>T |