Linked Data
dbSNP Id:
rs1003518736
gnomAD v2:
11-72670842-T-C
gnomAD v3:
11-72959797-T-C
gnomAD v4:
11-72959797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72959797T>C , CM000673.2:g.72959797T>C | GRCh38 |
| NC_000011.9:g.72670842T>C , CM000673.1:g.72670842T>C | GRCh37 |
| NC_000011.8:g.72348490T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409418.9:c.705+24291A>G MANE Select | ENSP00000386722.4:n.705+24291A>G | |
| ENST00000311172.11:c.537+24291A>G | ENSP00000308978.7:n.537+24291A>G | |
| ENST00000409314.5:c.705+24291A>G | ENSP00000386987.1:n.705+24291A>G | |
| ENST00000409418.8:c.705+24291A>G | ENSP00000386722.4:n.705+24291A>G | |
| ENST00000409853.5:c.537+24291A>G | ENSP00000386314.1:n.537+24291A>G | |
| ENST00000458644.6:c.225+24291A>G | ENSP00000402972.2:n.225+24291A>G | |
| NM_014824.2:c.705+24291A>G | NP_055639.2:n.705+24291A>G | |
| XM_011545409.1:c.642+24291A>G | XP_011543711.1:n.642+24291A>G | |
| XM_011545410.1:c.630+24291A>G | XP_011543712.1:n.630+24291A>G | |
| XM_011545411.1:c.471+24291A>G | XP_011543713.1:n.471+24291A>G | |
| XM_011545412.1:c.705+24291A>G | XP_011543714.1:n.705+24291A>G | |
| XM_011545410.2:c.630+24291A>G | XP_011543712.1:n.630+24291A>G | |
| XM_017018632.1:c.642+24291A>G | XP_016874121.1:n.642+24291A>G | |
| XR_001748055.1:n.1510+24291A>G | ||
| NM_014824.3:c.705+24291A>G MANE Select | NP_055639.2:n.705+24291A>G |