Linked Data
dbSNP Id:
rs1355331019
gnomAD v2:
12-6140746-T-TA
gnomAD v3:
12-6031580-T-TA
gnomAD v4:
12-6031580-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031580_6031581insA , CM000674.2:g.6031580_6031581insA | GRCh38 |
| NC_000012.11:g.6140746_6140747insA , CM000674.1:g.6140746_6140747insA | GRCh37 |
| NC_000012.10:g.6011007_6011008insA | NCBI36 |
| NG_009072.1:g.98090_98091insT | |
| NG_009072.2:g.98090_98091insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2686-3_2686-2insT MANE Select | ENSP00000261405.5:n.2686-3_2686-2insT | |
| ENST00000261405.9:c.2686-3_2686-2insT | ENSP00000261405.5:n.2686-3_2686-2insT | |
| ENST00000538635.5:n.421-37647_421-37646insT | ||
| NM_000552.3:c.2686-3_2686-2insT | NP_000543.2:n.2686-3_2686-2insT | |
| NM_000552.4:c.2686-3_2686-2insT | NP_000543.2:n.2686-3_2686-2insT | |
| NM_000552.5:c.2686-3_2686-2insT MANE Select | NP_000543.3:n.2686-3_2686-2insT |