Linked Data
ClinVar Variation Id:
194138
dbSNP Id:
rs138072724
ExAC:
7:33384197 C / T
gnomAD v2:
7-33384197-C-T
gnomAD v3:
7-33344585-C-T
gnomAD v4:
7-33344585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33344585C>T , CM000669.2:g.33344585C>T | GRCh38 |
| NC_000007.13:g.33384197C>T , CM000669.1:g.33384197C>T | GRCh37 |
| NC_000007.12:g.33350722C>T | NCBI36 |
| NG_009306.1:g.220046C>T | |
| NG_009306.2:g.220342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.1280C>T MANE Select | ENSP00000242067.6:p.Ala427Val | |
| ENST00000671871.1:c.1403C>T | ENSP00000499908.1:p.Ala468Val | |
| ENST00000671890.1:c.1145C>T | ENSP00000500146.1:p.Ala382Val | |
| ENST00000671952.1:c.1280C>T | ENSP00000500239.1:p.Ala427Val | |
| ENST00000671963.1:c.914C>T | ENSP00000499904.1:p.Ala305Val | |
| ENST00000672453.1:n.1049C>T | ||
| ENST00000672717.1:c.1280C>T | ENSP00000499835.1:p.Ala427Val | |
| ENST00000672973.1:c.1280C>T | ENSP00000500017.1:p.Ala427Val | |
| ENST00000673056.1:c.1280C>T | ENSP00000499989.1:p.Ala427Val | |
| ENST00000673219.1:c.*1017C>T | ENSP00000499968.1:n.*1017C>T | |
| ENST00000673230.1:n.1311C>T | ||
| ENST00000673431.1:c.1145C>T | ENSP00000500552.1:p.Ala382Val | |
| ENST00000673462.1:c.1280C>T | ENSP00000499848.1:p.Ala427Val | |
| ENST00000242067.10:c.1280C>T | ENSP00000242067.6:p.Ala427Val | |
| ENST00000350941.7:c.1280C>T | ENSP00000313122.6:p.Ala427Val | |
| ENST00000355070.6:c.1280C>T | ENSP00000347182.2:p.Ala427Val | |
| ENST00000396127.6:c.1280C>T | ENSP00000379433.2:p.Ala427Val | |
| ENST00000433714.5:c.1280C>T | ENSP00000412159.1:p.Ala427Val | |
| NM_001033604.1:c.1280C>T | NP_001028776.1:p.Ala427Val | |
| NM_001033605.1:c.1280C>T | NP_001028777.1:p.Ala427Val | |
| NM_014451.3:c.1280C>T | NP_055266.2:p.Ala427Val | |
| NM_198428.2:c.1280C>T | NP_940820.1:p.Ala427Val | |
| XM_005249700.3:c.1280C>T | XP_005249757.1:p.Ala427Val | |
| XM_005249701.1:c.1280C>T | XP_005249758.1:p.Ala427Val | |
| XM_011515264.1:c.1280C>T | XP_011513566.1:p.Ala427Val | |
| XM_011515265.1:c.1280C>T | XP_011513567.1:p.Ala427Val | |
| XM_011515266.1:c.1280C>T | XP_011513568.1:p.Ala427Val | |
| XM_011515267.1:c.1280C>T | XP_011513569.1:p.Ala427Val | |
| XM_011515268.1:c.1280C>T | XP_011513570.1:p.Ala427Val | |
| XM_011515269.1:c.1007C>T | XP_011513571.1:p.Ala336Val | |
| XM_011515270.1:c.1280C>T | XP_011513572.1:p.Ala427Val | |
| NM_001348036.1:c.1280C>T | NP_001334965.1:p.Ala427Val | |
| NM_001348037.2:c.914C>T | NP_001334966.1:p.Ala305Val | |
| NM_001348038.2:c.1007C>T | NP_001334967.1:p.Ala336Val | |
| NM_001348039.2:c.1007C>T | NP_001334968.1:p.Ala336Val | |
| NM_001348040.2:c.1280C>T | NP_001334969.1:p.Ala427Val | |
| NM_001348041.3:c.1280C>T | NP_001334970.1:p.Ala427Val | |
| NM_001348042.2:c.1145C>T | NP_001334971.1:p.Ala382Val | |
| NM_001348043.2:c.1280C>T | NP_001334972.1:p.Ala427Val | |
| NM_001348044.2:c.914C>T | NP_001334973.1:p.Ala305Val | |
| NM_001348045.2:c.914C>T | NP_001334974.1:p.Ala305Val | |
| NM_001348046.2:c.914C>T | NP_001334975.1:p.Ala305Val | |
| NM_001362679.1:c.1280C>T | NP_001349608.1:p.Ala427Val | |
| NR_145411.1:n.1559C>T | ||
| NR_145412.1:n.1559C>T | ||
| NR_145413.2:n.1793C>T | ||
| XM_005249701.3:c.1280C>T | XP_005249758.1:p.Ala427Val | |
| XM_011515265.2:c.1280C>T | XP_011513567.1:p.Ala427Val | |
| XM_011515266.3:c.1280C>T | XP_011513568.1:p.Ala427Val | |
| XM_011515267.3:c.1280C>T | XP_011513569.1:p.Ala427Val | |
| XM_011515269.2:c.1007C>T | XP_011513571.1:p.Ala336Val | |
| XM_011515270.3:c.1280C>T | XP_011513572.1:p.Ala427Val | |
| XM_017011990.1:c.1280C>T | XP_016867479.1:p.Ala427Val | |
| XM_017011994.2:c.1280C>T | XP_016867483.1:p.Ala427Val | |
| XR_001744634.2:n.1783C>T | ||
| NM_001348040.3:c.1280C>T | NP_001334969.1:p.Ala427Val | |
| NM_001348041.4:c.1280C>T | NP_001334970.1:p.Ala427Val | |
| NM_001348043.3:c.1280C>T | NP_001334972.1:p.Ala427Val | |
| NM_198428.3:c.1280C>T MANE Select | NP_940820.1:p.Ala427Val | |
| NM_001033604.2:c.1280C>T | NP_001028776.1:p.Ala427Val | |
| NM_001033605.2:c.1280C>T | NP_001028777.1:p.Ala427Val | |
| NM_001348037.3:c.914C>T | NP_001334966.1:p.Ala305Val | |
| NM_001348038.3:c.1007C>T | NP_001334967.1:p.Ala336Val | |
| NM_001348039.3:c.1007C>T | NP_001334968.1:p.Ala336Val | |
| NM_001348042.3:c.1145C>T | NP_001334971.1:p.Ala382Val | |
| NM_001348044.3:c.914C>T | NP_001334973.1:p.Ala305Val | |
| NM_001348045.3:c.914C>T | NP_001334974.1:p.Ala305Val | |
| NM_001348046.3:c.914C>T | NP_001334975.1:p.Ala305Val | |
| NM_014451.4:c.1280C>T | NP_055266.2:p.Ala427Val | |
| NR_145413.3:n.1769C>T |