Linked Data
ClinVar Variation Id:
1631179
ClinVar RCV Id:
RCV003061757
dbSNP Id:
rs200519856
ExAC:
16:50763718 T / G
gnomAD v2:
16-50763718-T-G
gnomAD v3:
16-50729807-T-G
gnomAD v4:
16-50729807-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50729807T>G , CM000678.2:g.50729807T>G | GRCh38 |
| NC_000016.9:g.50763718T>G , CM000678.1:g.50763718T>G | GRCh37 |
| NC_000016.8:g.49321219T>G | NCBI36 |
| NG_007508.1:g.37669T>G , LRG_177:g.37669T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.2382-11T>G | ENSP00000493088.1:n.2382-11T>G | |
| ENST00000646677.2:c.*651-11T>G | ENSP00000496533.1:n.*651-11T>G | |
| ENST00000697428.1:n.2364-11T>G | ||
| ENST00000641284.1:c.2382-11T>G | ENSP00000493088.1:n.2382-11T>G | |
| ENST00000646677.1:c.*651-11T>G | ENSP00000496533.1:n.*651-11T>G | |
| ENST00000647318.2:c.2886-11T>G MANE Select | ENSP00000495993.1:n.2886-11T>G | |
| ENST00000300589.6:c.2967-11T>G | ENSP00000300589.2:n.2967-11T>G | |
| NM_001293557.1:c.2886-11T>G | NP_001280486.1:n.2886-11T>G | |
| NM_022162.2:c.2967-11T>G | NP_071445.1:n.2967-11T>G | |
| XM_005256084.2:c.2886-11T>G | XP_005256141.1:n.2886-11T>G | |
| XM_006721242.2:c.2802-11T>G | XP_006721305.1:n.2802-11T>G | |
| XM_011523257.1:c.2463-11T>G | XP_011521559.1:n.2463-11T>G | |
| XM_011523258.1:c.2463-11T>G | XP_011521560.1:n.2463-11T>G | |
| XM_011523259.1:c.2301-11T>G | XP_011521561.1:n.2301-11T>G | |
| XM_005256084.4:c.2886-11T>G | XP_005256141.1:n.2886-11T>G | |
| XM_006721242.4:c.2802-11T>G | XP_006721305.1:n.2802-11T>G | |
| XM_011523259.2:c.2301-11T>G | XP_011521561.1:n.2301-11T>G | |
| XM_017023535.1:c.2394-11T>G | XP_016879024.1:n.2394-11T>G | |
| XM_017023536.1:c.2301-11T>G | XP_016879025.1:n.2301-11T>G | |
| XM_017023537.1:c.2301-11T>G | XP_016879026.1:n.2301-11T>G | |
| XM_017023538.1:c.2301-11T>G | XP_016879027.1:n.2301-11T>G | |
| NM_001293557.2:c.2886-11T>G | NP_001280486.1:n.2886-11T>G | |
| NM_001370466.1:c.2886-11T>G MANE Select | NP_001357395.1:n.2886-11T>G | |
| NM_022162.3:c.2967-11T>G | NP_071445.1:n.2967-11T>G | |
| NR_163434.1:n.3098-11T>G |