Linked Data
ClinVar Variation Id:
2417272
ClinVar RCV Id:
RCV003114741
dbSNP Id:
rs755411699
ExAC:
9:94488807 T / C
gnomAD v2:
9-94488807-T-C
gnomAD v3:
9-91726525-T-C
gnomAD v4:
9-91726525-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726525T>C , CM000671.2:g.91726525T>C | GRCh38 |
| NC_000009.11:g.94488807T>C , CM000671.1:g.94488807T>C | GRCh37 |
| NC_000009.10:g.93528628T>C | NCBI36 |
| NG_008089.1:g.228638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1386+16A>G MANE Select | ENSP00000364860.3:n.1386+16A>G | |
| ENST00000375708.3:c.1386+16A>G | ENSP00000364860.3:n.1386+16A>G | |
| ENST00000375715.5:c.966+16A>G | ENSP00000364867.1:n.966+16A>G | |
| ENST00000550066.5:n.1854+16A>G | ||
| NM_004560.3:c.1386+16A>G | NP_004551.2:n.1386+16A>G | |
| XM_005252008.3:c.966+16A>G | XP_005252065.1:n.966+16A>G | |
| XM_005252009.3:c.183+16A>G | XP_005252066.1:n.183+16A>G | |
| XM_006717121.2:c.966+16A>G | XP_006717184.1:n.966+16A>G | |
| XM_011518721.1:c.966+16A>G | XP_011517023.1:n.966+16A>G | |
| NM_001318204.1:c.*69A>G | NP_001305133.1:n.*69A>G | |
| XM_005252008.4:c.966+16A>G | XP_005252065.1:n.966+16A>G | |
| XM_006717121.3:c.966+16A>G | XP_006717184.1:n.966+16A>G | |
| XM_017014762.1:c.1377+16A>G | XP_016870251.1:n.1377+16A>G | |
| XM_017014763.1:c.966+16A>G | XP_016870252.1:n.966+16A>G | |
| XR_001746315.1:n.1595+16A>G | ||
| NM_004560.4:c.1386+16A>G MANE Select | NP_004551.2:n.1386+16A>G | |
| NM_001318204.2:c.*69A>G | NP_001305133.1:n.*69A>G |