Linked Data
ClinVar Variation Id:
294676
ClinVar RCV Id:
RCV000281831
RCV000317013
RCV000371666
RCV000418233
RCV000945740
RCV001073755
RCV002292503
dbSNP Id:
rs150412614
ExAC:
1:197396685 C / A
gnomAD v2:
1-197396685-C-A
gnomAD v3:
1-197427555-C-A
gnomAD v4:
1-197427555-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427555C>A , CM000663.2:g.197427555C>A | GRCh38 |
| NC_000001.10:g.197396685C>A , CM000663.1:g.197396685C>A | GRCh37 |
| NC_000001.9:g.195663308C>A | NCBI36 |
| NG_008483.1:g.164278C>A | |
| NG_008483.2:g.231094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2230C>A MANE Select | ENSP00000356370.3:p.Arg744= | |
| ENST00000638467.1:c.2230C>A | ENSP00000491102.1:p.Arg744= | |
| ENST00000681519.1:c.1111C>A | ENSP00000505267.1:p.Arg371= | |
| ENST00000367397.1:c.373C>A | ENSP00000356367.1:p.Arg125= | |
| ENST00000367399.6:c.1894C>A | ENSP00000356369.2:p.Arg632= | |
| ENST00000367400.7:c.2230C>A | ENSP00000356370.3:p.Arg744= | |
| ENST00000480086.2:n.131C>A | ||
| ENST00000484075.5:c.2230C>A | ENSP00000433932.1:p.Arg744= | |
| ENST00000535699.5:c.2023C>A | ENSP00000438786.1:p.Arg675= | |
| ENST00000538660.5:c.2128+5599C>A | ENSP00000438091.1:n.2128+5599C>A | |
| NM_001193640.1:c.1894C>A | NP_001180569.1:p.Arg632= | |
| NM_001257965.1:c.2023C>A | NP_001244894.1:p.Arg675= | |
| NM_001257966.1:c.2128+5599C>A | NP_001244895.1:n.2128+5599C>A | |
| NM_201253.2:c.2230C>A | NP_957705.1:p.Arg744= | |
| NR_047563.1:n.2231C>A | ||
| NR_047564.1:n.2439C>A | ||
| XM_011509365.1:c.2230C>A | XP_011507667.1:p.Arg744= | |
| XM_011509366.1:c.2230C>A | XP_011507668.1:p.Arg744= | |
| XM_011509367.1:c.2230C>A | XP_011507669.1:p.Arg744= | |
| XM_011509368.1:c.1648C>A | XP_011507670.1:p.Arg550= | |
| XM_011509369.1:c.673C>A | XP_011507671.1:p.Arg225= | |
| XM_011509365.2:c.2230C>A | XP_011507667.1:p.Arg744= | |
| XM_011509369.2:c.673C>A | XP_011507671.1:p.Arg225= | |
| XM_017000851.1:c.1387C>A | XP_016856340.1:p.Arg463= | |
| XM_017000852.1:c.2230C>A | XP_016856341.1:p.Arg744= | |
| NM_201253.3:c.2230C>A MANE Select | NP_957705.1:p.Arg744= | |
| NM_001193640.2:c.1894C>A | NP_001180569.1:p.Arg632= | |
| NM_001257965.2:c.2023C>A | NP_001244894.1:p.Arg675= | |
| NR_047563.2:n.2183C>A | ||
| NR_047564.2:n.2391C>A | ||
| NM_001257966.2:c.2128+5599C>A | NP_001244895.1:n.2128+5599C>A |