Linked Data
ClinVar Variation Id:
375552
dbSNP Id:
rs1057519563
gnomAD v2:
11-9182382-G-A
gnomAD v3:
11-9160835-G-A
gnomAD v4:
11-9160835-G-A
COSMIC:
COSM239558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9160835G>A , CM000673.2:g.9160835G>A | GRCh38 |
| NC_000011.9:g.9182382G>A , CM000673.1:g.9182382G>A | GRCh37 |
| NC_000011.8:g.9138958G>A | NCBI36 |
| NG_053019.1:g.109501C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328194.8:c.2314C>T MANE Select | ENSP00000328524.3:p.Arg772Ter | |
| ENST00000530780.2:c.*2140C>T | ENSP00000433925.1:n.*2140C>T | |
| ENST00000679446.1:n.2235C>T | ||
| ENST00000679458.1:n.3715C>T | ||
| ENST00000679460.1:n.2103C>T | ||
| ENST00000679568.1:c.2314C>T | ENSP00000505860.1:p.Arg772Ter | |
| ENST00000679745.1:n.2103C>T | ||
| ENST00000679926.1:n.1130C>T | ||
| ENST00000679999.1:c.2314C>T | ENSP00000505198.1:p.Arg772Ter | |
| ENST00000680252.1:c.2103C>T | ||
| ENST00000680294.1:c.2314C>T | ENSP00000506113.1:p.Arg772Ter | |
| ENST00000680358.1:n.1613C>T | ||
| ENST00000680470.1:c.*180C>T | ENSP00000505975.1:n.*180C>T | |
| ENST00000680554.1:c.2026C>T | ENSP00000505621.1:p.Arg676Ter | |
| ENST00000680576.1:n.2103C>T | ||
| ENST00000680599.1:n.2231C>T | ||
| ENST00000680742.1:c.2314C>T | ENSP00000505206.1:p.Arg772Ter | |
| ENST00000680885.1:n.2235C>T | ||
| ENST00000681158.1:c.2103C>T | ||
| ENST00000681173.1:n.2103C>T | ||
| ENST00000681203.1:c.2242C>T | ENSP00000506456.1:p.Arg748Ter | |
| ENST00000681425.1:n.2235C>T | ||
| ENST00000328194.7:c.2314C>T | ENSP00000328524.3:p.Arg772Ter | |
| ENST00000526707.5:c.2242C>T | ENSP00000436780.1:p.Arg748Ter | |
| ENST00000527700.5:n.1876C>T | ||
| ENST00000530044.5:c.2314C>T | ENSP00000435866.1:p.Arg772Ter | |
| NM_001243254.1:c.2314C>T | NP_001230183.1:p.Arg772Ter | |
| NM_015213.3:c.2314C>T | NP_056028.2:p.Arg772Ter | |
| XM_005252832.1:c.2314C>T | XP_005252889.1:p.Arg772Ter | |
| XM_011519952.1:c.2314C>T | XP_011518254.1:p.Arg772Ter | |
| XM_011519953.1:c.412C>T | XP_011518255.1:p.Arg138Ter | |
| XR_242782.2:n.2579C>T | ||
| XR_930851.1:n.2579C>T | ||
| XR_930852.1:n.2579C>T | ||
| XR_930853.1:n.2428C>T | ||
| NM_001348749.1:c.2242C>T | NP_001335678.1:p.Arg748Ter | |
| NM_001348750.1:c.2026C>T | NP_001335679.1:p.Arg676Ter | |
| NR_145966.2:n.2571C>T | ||
| NM_015213.4:c.2314C>T MANE Select | NP_056028.2:p.Arg772Ter | |
| NM_001243254.2:c.2314C>T | NP_001230183.1:p.Arg772Ter | |
| NM_001348749.2:c.2242C>T | NP_001335678.1:p.Arg748Ter | |
| NM_001348750.2:c.2026C>T | NP_001335679.1:p.Arg676Ter |