Linked Data
ClinVar Variation Id:
3051574
ClinVar RCV Id:
RCV003959535
dbSNP Id:
rs116680643
ExAC:
17:1373586 G / C
gnomAD v2:
17-1373586-G-C
gnomAD v3:
17-1470292-G-C
gnomAD v4:
17-1470292-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1470292G>C , CM000679.2:g.1470292G>C | GRCh38 |
| NC_000017.10:g.1373586G>C , CM000679.1:g.1373586G>C | GRCh37 |
| NC_000017.9:g.1320336G>C | NCBI36 |
| NG_047063.1:g.27416C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361007.7:c.2304C>G | ENSP00000354283.2:p.Pro768= | |
| ENST00000570984.7:c.2304C>G | ENSP00000459271.3:p.Pro768= | |
| ENST00000646049.1:c.2304C>G | ENSP00000493973.1:p.Pro768= | |
| ENST00000648446.1:c.2352C>G | ENSP00000496799.1:p.Pro784= | |
| ENST00000648651.1:c.2409C>G MANE Select | ENSP00000496954.1:p.Pro803= | |
| ENST00000359786.9:c.2409C>G | ENSP00000352834.5:p.Pro803= | |
| ENST00000361007.6:c.2304C>G | ENSP00000354283.2:p.Pro768= | |
| ENST00000438665.6:c.2352C>G | ENSP00000412197.2:p.Pro784= | |
| ENST00000545534.6:c.2337C>G | ENSP00000437685.2:p.Pro779= | |
| ENST00000572615.1:n.93C>G | ||
| ENST00000575011.1:c.333C>G | ||
| ENST00000575158.5:c.2304C>G | ENSP00000459174.1:p.Pro768= | |
| NM_001080779.1:c.2409C>G | NP_001074248.1:p.Pro803= | |
| NM_001080950.1:c.2352C>G | NP_001074419.1:p.Pro784= | |
| NM_033375.4:c.2304C>G | NP_203693.3:p.Pro768= | |
| NM_001363855.1:c.2337C>G | NP_001350784.1:p.Pro779= | |
| XM_024450768.1:c.2304C>G | XP_024306536.1:p.Pro768= | |
| XM_024450769.1:c.2304C>G | XP_024306537.1:p.Pro768= | |
| NM_001080779.2:c.2409C>G MANE Select | NP_001074248.1:p.Pro803= | |
| NM_001080950.2:c.2352C>G | NP_001074419.1:p.Pro784= | |
| NM_033375.5:c.2304C>G | NP_203693.3:p.Pro768= |