Linked Data
ClinVar Variation Id:
352995
dbSNP Id:
rs758462343
ExAC:
5:176831185 C / G
gnomAD v2:
5-176831185-C-G
gnomAD v3:
5-177404184-C-G
gnomAD v4:
5-177404184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404184C>G , CM000667.2:g.177404184C>G | GRCh38 |
| NC_000005.9:g.176831185C>G , CM000667.1:g.176831185C>G | GRCh37 |
| NC_000005.8:g.176763791C>G | NCBI36 |
| NG_007568.1:g.10393G>C , LRG_145:g.10393G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*684+12G>C (F12) | ENSP00000512476.1:n.*684+12G>C | |
| ENST00000696193.1:c.*1388+12G>C (F12) | ENSP00000512477.1:n.*1388+12G>C | |
| ENST00000696194.1:c.*608+12G>C (F12) | ENSP00000512478.1:n.*608+12G>C | |
| ENST00000696195.1:n.3821+12G>C (F12) | ||
| ENST00000696200.1:n.1121+12G>C (F12) | ||
| ENST00000696201.1:c.1018+12G>C (F12) | ENSP00000512482.1:n.1018+12G>C | |
| ENST00000253496.4:c.1018+12G>C (F12) MANE Select | ENSP00000253496.3:n.1018+12G>C | |
| ENST00000253496.3:c.1018+12G>C (F12) | ENSP00000253496.3:n.1018+12G>C | |
| ENST00000502598.5:c.-45+658C>G (GRK6) | ENSP00000422873.1:n.-45+658C>G | |
| ENST00000502854.5:n.277+12G>C (F12) | ||
| ENST00000503736.1:n.390+12G>C (F12) | ||
| ENST00000510358.5:n.289G>C (F12) | ||
| NM_000505.3:c.1018+12G>C , LRG_145t1:c.1018+12G>C (F12) | NP_000496.2:n.1018+12G>C | |
| XM_011534461.1:c.1018+12G>C (F12) | XP_011532763.1:n.1018+12G>C | |
| XM_011534462.1:c.682+12G>C (F12) | XP_011532764.1:n.682+12G>C | |
| XM_011534462.2:c.682+12G>C (F12) | XP_011532764.1:n.682+12G>C | |
| XM_017009773.2:c.1416+7110C>G (SLC34A1) | XP_016865262.1:n.1416+7110C>G | |
| NM_000505.4:c.1018+12G>C (F12) MANE Select | NP_000496.2:n.1018+12G>C |