Linked Data
dbSNP Id:
rs377166169
ExAC:
17:42462489 T / C
gnomAD v2:
17-42462489-T-C
gnomAD v3:
17-44385121-T-C
gnomAD v4:
17-44385121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385121T>C , CM000679.2:g.44385121T>C | GRCh38 |
| NC_000017.10:g.42462489T>C , CM000679.1:g.42462489T>C | GRCh37 |
| NC_000017.9:g.39818015T>C | NCBI36 |
| NG_008331.1:g.9385A>G , LRG_479:g.9385A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.670+43A>G MANE Select | ENSP00000262407.5:n.670+43A>G | |
| ENST00000648408.1:c.101+43A>G | ||
| ENST00000262407.5:c.670+43A>G | ENSP00000262407.5:n.670+43A>G | |
| ENST00000589645.5:n.121+43A>G | ||
| ENST00000591990.5:n.32+43A>G | ||
| ENST00000592075.5:n.39+43A>G | ||
| ENST00000592226.5:n.39+43A>G | ||
| ENST00000592253.5:n.178+43A>G | ||
| ENST00000592944.1:n.352+43A>G | ||
| NM_000419.3:c.670+43A>G , LRG_479t1:c.670+43A>G | NP_000410.2:n.670+43A>G | |
| XM_011524749.1:c.670+43A>G | XP_011523051.1:n.670+43A>G | |
| XM_011524750.1:c.670+43A>G | XP_011523052.1:n.670+43A>G | |
| NM_000419.4:c.670+43A>G | NP_000410.2:n.670+43A>G | |
| NM_000419.5:c.670+43A>G MANE Select | NP_000410.2:n.670+43A>G |