Linked Data
dbSNP Id:
rs991416630
gnomAD v2:
10-96540556-G-T
gnomAD v3:
10-94780799-G-T
gnomAD v4:
10-94780799-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780799G>T , CM000672.2:g.94780799G>T | GRCh38 |
| NC_000010.10:g.96540556G>T , CM000672.1:g.96540556G>T | GRCh37 |
| NC_000010.9:g.96530546G>T | NCBI36 |
| NG_008384.2:g.23094G>T | |
| NG_008384.3:g.23119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.642+140G>T MANE Select | ENSP00000360372.3:n.642+140G>T | |
| ENST00000645461.1:n.1695+140G>T | ||
| ENST00000371321.7:c.642+140G>T | ENSP00000360372.3:n.642+140G>T | |
| ENST00000464755.1:c.1405+140G>T | ENSP00000483243.1:n.1405+140G>T | |
| NM_000769.2:c.642+140G>T | NP_000760.1:n.642+140G>T | |
| NM_000769.4:c.642+140G>T MANE Select | NP_000760.1:n.642+140G>T |