Linked Data
dbSNP Id:
rs191947947
gnomAD v2:
10-96701447-G-T
gnomAD v3:
10-94941690-G-T
gnomAD v4:
10-94941690-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941690G>T , CM000672.2:g.94941690G>T | GRCh38 |
| NC_000010.10:g.96701447G>T , CM000672.1:g.96701447G>T | GRCh37 |
| NC_000010.9:g.96691437G>T | NCBI36 |
| NG_008385.1:g.8033G>T | |
| NG_008385.2:g.8533G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-168G>T MANE Select | ENSP00000260682.6:n.169-168G>T | |
| ENST00000643112.1:c.169-168G>T | ENSP00000496202.1:n.169-168G>T | |
| ENST00000645207.1:n.154G>T | ||
| ENST00000260682.6:c.169-168G>T | ENSP00000260682.6:n.169-168G>T | |
| ENST00000461906.1:n.194-168G>T | ||
| NM_000771.3:c.169-168G>T | NP_000762.2:n.169-168G>T | |
| NM_000771.4:c.169-168G>T MANE Select | NP_000762.2:n.169-168G>T |