Linked Data
ClinVar Variation Id:
2144414
ClinVar RCV Id:
RCV003068386
dbSNP Id:
rs765210114
ExAC:
1:197396789 C / G
gnomAD v2:
1-197396789-C-G
gnomAD v3:
1-197427659-C-G
gnomAD v4:
1-197427659-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427659C>G , CM000663.2:g.197427659C>G | GRCh38 |
| NC_000001.10:g.197396789C>G , CM000663.1:g.197396789C>G | GRCh37 |
| NC_000001.9:g.195663412C>G | NCBI36 |
| NG_008483.1:g.164382C>G | |
| NG_008483.2:g.231198C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2334C>G MANE Select | ENSP00000356370.3:p.Asn778Lys | |
| ENST00000638467.1:c.2334C>G | ENSP00000491102.1:p.Asn778Lys | |
| ENST00000681519.1:c.1215C>G | ENSP00000505267.1:p.Asn405Lys | |
| ENST00000367397.1:c.477C>G | ENSP00000356367.1:p.Asn159Lys | |
| ENST00000367399.6:c.1998C>G | ENSP00000356369.2:p.Asn666Lys | |
| ENST00000367400.7:c.2334C>G | ENSP00000356370.3:p.Asn778Lys | |
| ENST00000480086.2:n.235C>G | ||
| ENST00000484075.5:c.2334C>G | ENSP00000433932.1:p.Asn778Lys | |
| ENST00000535699.5:c.2127C>G | ENSP00000438786.1:p.Asn709Lys | |
| ENST00000538660.5:c.2128+5703C>G | ENSP00000438091.1:n.2128+5703C>G | |
| NM_001193640.1:c.1998C>G | NP_001180569.1:p.Asn666Lys | |
| NM_001257965.1:c.2127C>G | NP_001244894.1:p.Asn709Lys | |
| NM_001257966.1:c.2128+5703C>G | NP_001244895.1:n.2128+5703C>G | |
| NM_201253.2:c.2334C>G | NP_957705.1:p.Asn778Lys | |
| NR_047563.1:n.2335C>G | ||
| NR_047564.1:n.2543C>G | ||
| XM_011509365.1:c.2334C>G | XP_011507667.1:p.Asn778Lys | |
| XM_011509366.1:c.2334C>G | XP_011507668.1:p.Asn778Lys | |
| XM_011509367.1:c.2334C>G | XP_011507669.1:p.Asn778Lys | |
| XM_011509368.1:c.1752C>G | XP_011507670.1:p.Asn584Lys | |
| XM_011509369.1:c.777C>G | XP_011507671.1:p.Asn259Lys | |
| XM_011509365.2:c.2334C>G | XP_011507667.1:p.Asn778Lys | |
| XM_011509369.2:c.777C>G | XP_011507671.1:p.Asn259Lys | |
| XM_017000851.1:c.1491C>G | XP_016856340.1:p.Asn497Lys | |
| XM_017000852.1:c.2334C>G | XP_016856341.1:p.Asn778Lys | |
| NM_201253.3:c.2334C>G MANE Select | NP_957705.1:p.Asn778Lys | |
| NM_001193640.2:c.1998C>G | NP_001180569.1:p.Asn666Lys | |
| NM_001257965.2:c.2127C>G | NP_001244894.1:p.Asn709Lys | |
| NR_047563.2:n.2287C>G | ||
| NR_047564.2:n.2495C>G | ||
| NM_001257966.2:c.2128+5703C>G | NP_001244895.1:n.2128+5703C>G |