Linked Data
ClinVar Variation Id:
100751
dbSNP Id:
rs33973568
gnomAD v2:
21-46306594-G-A
gnomAD v3:
21-44886679-G-A
gnomAD v4:
21-44886679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886679G>A , CM000683.2:g.44886679G>A | GRCh38 |
| NC_000021.8:g.46306594G>A , CM000683.1:g.46306594G>A | GRCh37 |
| NC_000021.7:g.45131022G>A | NCBI36 |
| NG_007270.2:g.47160C>T , LRG_76:g.47160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.1454+57C>T | ||
| ENST00000302347.10:c.2319+57C>T | ENSP00000303242.6:n.2319+57C>T | |
| ENST00000652462.1:c.2247+57C>T MANE Select | ENSP00000498780.1:n.2247+57C>T | |
| ENST00000302347.9:c.2247+57C>T | ENSP00000303242.5:n.2247+57C>T | |
| ENST00000355153.8:c.2247+57C>T | ENSP00000347279.4:n.2247+57C>T | |
| ENST00000397850.6:c.2247+57C>T | ENSP00000380948.2:n.2247+57C>T | |
| ENST00000397852.5:c.2247+57C>T | ENSP00000380950.1:n.2247+57C>T | |
| ENST00000397854.7:c.2076+57C>T | ENSP00000380952.3:n.2076+57C>T | |
| ENST00000397857.5:c.2247+57C>T | ENSP00000380955.1:n.2247+57C>T | |
| ENST00000475170.5:n.1647+57C>T | ||
| ENST00000479202.5:n.606+57C>T | ||
| ENST00000498666.5:n.4303+57C>T | ||
| ENST00000523323.5:c.*2074+57C>T | ENSP00000427732.1:n.*2074+57C>T | |
| ENST00000610622.4:c.*938+57C>T | ENSP00000480700.1:n.*938+57C>T | |
| NM_000211.4:c.2247+57C>T | NP_000202.3:n.2247+57C>T | |
| NM_001127491.2:c.2247+57C>T | NP_001120963.2:n.2247+57C>T | |
| NM_001303238.1:c.2040+57C>T | NP_001290167.1:n.2040+57C>T | |
| XM_006724001.1:c.2040+57C>T | XP_006724064.1:n.2040+57C>T | |
| XM_006724001.2:c.2040+57C>T | XP_006724064.1:n.2040+57C>T | |
| NM_000211.5:c.2247+57C>T MANE Select | NP_000202.3:n.2247+57C>T | |
| NM_001127491.3:c.2247+57C>T | NP_001120963.2:n.2247+57C>T | |
| NM_001303238.2:c.2040+57C>T | NP_001290167.1:n.2040+57C>T |