Linked Data
dbSNP Id:
rs1432344367
gnomAD v2:
7-44184846-C-G
gnomAD v3:
7-44145247-C-G
gnomAD v4:
7-44145247-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145247C>G , CM000669.2:g.44145247C>G | GRCh38 |
| NC_000007.13:g.44184846C>G , CM000669.1:g.44184846C>G | GRCh37 |
| NC_000007.12:g.44151371C>G | NCBI36 |
| NG_008847.1:g.49177G>C | |
| NG_008847.2:g.57924G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1285G>C | ENSP00000379142.4:n.*1285G>C | |
| ENST00000616242.5:c.*407G>C | ENSP00000482149.2:n.*407G>C | |
| ENST00000683378.1:n.513G>C | ||
| ENST00000336642.9:c.321G>C | ENSP00000338009.5:p.Arg107Ser | |
| ENST00000345378.7:c.1290G>C | ENSP00000223366.2:p.Arg430Ser | |
| ENST00000403799.8:c.1287G>C MANE Select | ENSP00000384247.3:p.Arg429Ser | |
| ENST00000671824.1:c.1350G>C | ENSP00000500264.1:p.Arg450Ser | |
| ENST00000672743.1:n.299G>C | ||
| ENST00000673284.1:c.1287G>C | ENSP00000499852.1:p.Arg429Ser | |
| ENST00000336642.8:c.339G>C | ENSP00000338009.4:p.Arg113Ser | |
| ENST00000345378.6:c.1290G>C | ENSP00000223366.2:p.Arg430Ser | |
| ENST00000395796.7:c.1284G>C | ENSP00000379142.3:p.Arg428Ser | |
| ENST00000403799.7:c.1287G>C | ENSP00000384247.3:p.Arg429Ser | |
| ENST00000437084.1:c.1236G>C | ENSP00000402840.1:p.Arg412Ser | |
| ENST00000459642.1:n.667G>C | ||
| ENST00000616242.4:c.1284G>C | ENSP00000482149.1:p.Arg428Ser | |
| NM_000162.3:c.1287G>C | NP_000153.1:p.Arg429Ser | |
| NM_033507.1:c.1290G>C | NP_277042.1:p.Arg430Ser | |
| NM_033508.1:c.1284G>C | NP_277043.1:p.Arg428Ser | |
| NM_000162.4:c.1287G>C | NP_000153.1:p.Arg429Ser | |
| NM_001354800.1:c.1287G>C | NP_001341729.1:p.Arg429Ser | |
| NM_001354801.1:c.276G>C | NP_001341730.1:p.Arg92Ser | |
| NM_001354802.1:c.147G>C | NP_001341731.1:p.Arg49Ser | |
| NM_001354803.1:c.321G>C | NP_001341732.1:p.Arg107Ser | |
| NM_033507.2:c.1290G>C | NP_277042.1:p.Arg430Ser | |
| NM_033508.2:c.1284G>C | NP_277043.1:p.Arg428Ser | |
| XM_024446707.1:c.147G>C | XP_024302475.1:p.Arg49Ser | |
| NM_000162.5:c.1287G>C MANE Select | NP_000153.1:p.Arg429Ser | |
| NM_033507.3:c.1290G>C | NP_277042.1:p.Arg430Ser | |
| NM_033508.3:c.1284G>C | NP_277043.1:p.Arg428Ser | |
| NM_001354803.2:c.321G>C | NP_001341732.1:p.Arg107Ser |