Linked Data
dbSNP Id:
rs1187710584
gnomAD v2:
16-30748596-C-G
gnomAD v3:
16-30737275-C-G
gnomAD v4:
16-30737275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737275C>G , CM000678.2:g.30737275C>G | GRCh38 |
| NC_000016.9:g.30748596C>G , CM000678.1:g.30748596C>G | GRCh37 |
| NC_000016.8:g.30656097C>G | NCBI36 |
| NG_032135.1:g.43135C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411466.7:c.7235C>G | ENSP00000405186.3:p.Thr2412Ser | |
| ENST00000704023.1:c.1515C>G | ||
| ENST00000706321.1:c.7235C>G | ENSP00000516346.1:p.Thr2412Ser | |
| ENST00000262518.9:c.7235C>G MANE Select | ENSP00000262518.4:p.Thr2412Ser | |
| ENST00000262518.8:c.7235C>G | ENSP00000262518.4:p.Thr2412Ser | |
| ENST00000380361.7:c.6704C>G | ENSP00000369719.3:p.Thr2235Ser | |
| ENST00000395059.6:c.6458C>G | ENSP00000378499.3:p.Thr2153Ser | |
| NM_006662.2:c.7235C>G | NP_006653.2:p.Thr2412Ser | |
| NM_006662.3:c.7235C>G MANE Select | NP_006653.2:p.Thr2412Ser |