Linked Data
dbSNP Id:
rs72981516
gnomAD v2:
11-72670900-T-G
gnomAD v3:
11-72959855-T-G
gnomAD v4:
11-72959855-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72959855T>G , CM000673.2:g.72959855T>G | GRCh38 |
| NC_000011.9:g.72670900T>G , CM000673.1:g.72670900T>G | GRCh37 |
| NC_000011.8:g.72348548T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409418.9:c.705+24233A>C MANE Select | ENSP00000386722.4:n.705+24233A>C | |
| ENST00000311172.11:c.537+24233A>C | ENSP00000308978.7:n.537+24233A>C | |
| ENST00000409314.5:c.705+24233A>C | ENSP00000386987.1:n.705+24233A>C | |
| ENST00000409418.8:c.705+24233A>C | ENSP00000386722.4:n.705+24233A>C | |
| ENST00000409853.5:c.537+24233A>C | ENSP00000386314.1:n.537+24233A>C | |
| ENST00000458644.6:c.225+24233A>C | ENSP00000402972.2:n.225+24233A>C | |
| NM_014824.2:c.705+24233A>C | NP_055639.2:n.705+24233A>C | |
| XM_011545409.1:c.642+24233A>C | XP_011543711.1:n.642+24233A>C | |
| XM_011545410.1:c.630+24233A>C | XP_011543712.1:n.630+24233A>C | |
| XM_011545411.1:c.471+24233A>C | XP_011543713.1:n.471+24233A>C | |
| XM_011545412.1:c.705+24233A>C | XP_011543714.1:n.705+24233A>C | |
| XM_011545410.2:c.630+24233A>C | XP_011543712.1:n.630+24233A>C | |
| XM_017018632.1:c.642+24233A>C | XP_016874121.1:n.642+24233A>C | |
| XR_001748055.1:n.1510+24233A>C | ||
| NM_014824.3:c.705+24233A>C MANE Select | NP_055639.2:n.705+24233A>C |