Linked Data
dbSNP Id:
rs11071033
gnomAD v2:
15-54380200-T-C
gnomAD v3:
15-54088003-T-C
gnomAD v4:
15-54088003-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.54088003T>C , CM000677.2:g.54088003T>C | GRCh38 |
| NC_000015.9:g.54380200T>C , CM000677.1:g.54380200T>C | GRCh37 |
| NC_000015.8:g.52167492T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260323.16:c.2984-55015T>C MANE Select | ENSP00000260323.11:n.2984-55015T>C | |
| ENST00000647821.1:c.2984-55015T>C | ENSP00000497525.1:n.2984-55015T>C | |
| ENST00000260323.15:c.2984-55015T>C | ENSP00000260323.11:n.2984-55015T>C | |
| NM_001080534.1:c.2984-55015T>C | NP_001074003.1:n.2984-55015T>C | |
| XM_005254394.3:c.2984-55015T>C | XP_005254451.1:n.2984-55015T>C | |
| XM_005254395.3:c.2984-55015T>C | XP_005254452.1:n.2984-55015T>C | |
| NM_001080534.2:c.2984-55015T>C | NP_001074003.1:n.2984-55015T>C | |
| NM_001329919.1:c.2984-55015T>C | NP_001316848.1:n.2984-55015T>C | |
| XM_005254394.5:c.2984-55015T>C | XP_005254451.1:n.2984-55015T>C | |
| XM_017022220.1:c.2984-55015T>C | XP_016877709.1:n.2984-55015T>C | |
| XM_017022221.1:c.2984-55015T>C | XP_016877710.1:n.2984-55015T>C | |
| XM_017022222.1:c.2984-55015T>C | XP_016877711.1:n.2984-55015T>C | |
| XM_017022223.1:c.2984-55015T>C | XP_016877712.1:n.2984-55015T>C | |
| XM_017022225.1:c.-32+72117T>C | XP_016877714.1:n.-32+72117T>C | |
| XR_001751291.1:n.9167-55015T>C | ||
| NM_001329919.2:c.2984-55015T>C | NP_001316848.1:n.2984-55015T>C | |
| NM_001080534.3:c.2984-55015T>C MANE Select | NP_001074003.1:n.2984-55015T>C |