Linked Data
ClinVar Variation Id:
1167
dbSNP Id:
rs1801020
ExAC:
5:176836532 A / G
gnomAD v2:
5-176836532-A-G
gnomAD v3:
5-177409531-A-G
gnomAD v4:
5-177409531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177409531A>G , CM000667.2:g.177409531A>G | GRCh38 |
| NC_000005.9:g.176836532A>G , CM000667.1:g.176836532A>G | GRCh37 |
| NC_000005.8:g.176769138A>G | NCBI36 |
| NG_007568.1:g.5046T>C , LRG_145:g.5046T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696192.1:c.-4T>C (F12) | ENSP00000512476.1:n.-4T>C | |
| ENST00000696193.1:c.-4T>C (F12) | ENSP00000512477.1:n.-4T>C | |
| ENST00000696194.1:c.-4T>C (F12) | ENSP00000512478.1:n.-4T>C | |
| ENST00000696195.1:n.45T>C (F12) | ||
| ENST00000696200.1:n.100T>C (F12) | ||
| ENST00000696201.1:c.-4T>C (F12) | ENSP00000512482.1:n.-4T>C | |
| ENST00000253496.4:c.-4T>C (F12) MANE Select | ENSP00000253496.3:n.-4T>C | |
| ENST00000253496.3:c.-4T>C (F12) | ENSP00000253496.3:n.-4T>C | |
| ENST00000502598.5:c.-45+6005A>G (GRK6) | ENSP00000422873.1:n.-45+6005A>G | |
| ENST00000506296.5:c.-45+4974A>G (GRK6) | ENSP00000421055.1:n.-45+4974A>G | |
| NM_000505.3:c.-4T>C , LRG_145t1:c.-4T>C (F12) | NP_000496.2:n.-4T>C | |
| XM_011534461.1:c.-4T>C (F12) | XP_011532763.1:n.-4T>C | |
| XM_017009773.2:c.1417-2233A>G (SLC34A1) | XP_016865262.1:n.1417-2233A>G | |
| NM_000505.4:c.-4T>C (F12) MANE Select | NP_000496.2:n.-4T>C |