Linked Data
dbSNP Id:
rs1422136041
gnomAD v2:
7-44185090-G-C
gnomAD v3:
7-44145491-G-C
gnomAD v4:
7-44145491-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145491G>C , CM000669.2:g.44145491G>C | GRCh38 |
| NC_000007.13:g.44185090G>C , CM000669.1:g.44185090G>C | GRCh37 |
| NC_000007.12:g.44151615G>C | NCBI36 |
| NG_008847.1:g.48933C>G | |
| NG_008847.2:g.57680C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1251+6C>G | ENSP00000379142.4:n.*1251+6C>G | |
| ENST00000616242.5:c.*373+6C>G | ENSP00000482149.2:n.*373+6C>G | |
| ENST00000683378.1:n.479+6C>G | ||
| ENST00000336642.9:c.287+6C>G | ENSP00000338009.5:n.287+6C>G | |
| ENST00000345378.7:c.1256+6C>G | ENSP00000223366.2:n.1256+6C>G | |
| ENST00000403799.8:c.1253+6C>G MANE Select | ENSP00000384247.3:n.1253+6C>G | |
| ENST00000671824.1:c.1316+6C>G | ENSP00000500264.1:n.1316+6C>G | |
| ENST00000672743.1:n.265+6C>G | ||
| ENST00000673284.1:c.1253+6C>G | ENSP00000499852.1:n.1253+6C>G | |
| ENST00000336642.8:c.305+6C>G | ENSP00000338009.4:n.305+6C>G | |
| ENST00000345378.6:c.1256+6C>G | ENSP00000223366.2:n.1256+6C>G | |
| ENST00000395796.7:c.1250+6C>G | ENSP00000379142.3:n.1250+6C>G | |
| ENST00000403799.7:c.1253+6C>G | ENSP00000384247.3:n.1253+6C>G | |
| ENST00000437084.1:c.1202+6C>G | ENSP00000402840.1:n.1202+6C>G | |
| ENST00000459642.1:n.633+6C>G | ||
| ENST00000616242.4:c.1250+6C>G | ENSP00000482149.1:n.1250+6C>G | |
| NM_000162.3:c.1253+6C>G | NP_000153.1:n.1253+6C>G | |
| NM_033507.1:c.1256+6C>G | NP_277042.1:n.1256+6C>G | |
| NM_033508.1:c.1250+6C>G | NP_277043.1:n.1250+6C>G | |
| NM_000162.4:c.1253+6C>G | NP_000153.1:n.1253+6C>G | |
| NM_001354800.1:c.1253+6C>G | NP_001341729.1:n.1253+6C>G | |
| NM_001354801.1:c.242+6C>G | NP_001341730.1:n.242+6C>G | |
| NM_001354802.1:c.113+6C>G | NP_001341731.1:n.113+6C>G | |
| NM_001354803.1:c.287+6C>G | NP_001341732.1:n.287+6C>G | |
| NM_033507.2:c.1256+6C>G | NP_277042.1:n.1256+6C>G | |
| NM_033508.2:c.1250+6C>G | NP_277043.1:n.1250+6C>G | |
| XM_024446707.1:c.113+6C>G | XP_024302475.1:n.113+6C>G | |
| NM_000162.5:c.1253+6C>G MANE Select | NP_000153.1:n.1253+6C>G | |
| NM_033507.3:c.1256+6C>G | NP_277042.1:n.1256+6C>G | |
| NM_033508.3:c.1250+6C>G | NP_277043.1:n.1250+6C>G | |
| NM_001354803.2:c.287+6C>G | NP_001341732.1:n.287+6C>G |