Linked Data
ClinVar Variation Id:
263119
dbSNP Id:
rs73688160
ExAC:
7:33392479 C / A
gnomAD v2:
7-33392479-C-A
gnomAD v3:
7-33352867-C-A
gnomAD v4:
7-33352867-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33352867C>A , CM000669.2:g.33352867C>A | GRCh38 |
| NC_000007.13:g.33392479C>A , CM000669.1:g.33392479C>A | GRCh37 |
| NC_000007.12:g.33359004C>A | NCBI36 |
| NG_009306.1:g.228328C>A | |
| NG_009306.2:g.228624C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.1546C>A MANE Select | ENSP00000242067.6:p.Pro516Thr | |
| ENST00000671871.1:c.1669C>A | ENSP00000499908.1:p.Pro557Thr | |
| ENST00000671890.1:c.1411C>A | ENSP00000500146.1:p.Pro471Thr | |
| ENST00000671952.1:c.1546C>A | ENSP00000500239.1:p.Pro516Thr | |
| ENST00000671963.1:c.1180C>A | ENSP00000499904.1:p.Pro394Thr | |
| ENST00000672453.1:n.1315C>A | ||
| ENST00000672717.1:c.1441C>A | ENSP00000499835.1:p.Pro481Thr | |
| ENST00000672973.1:c.1546C>A | ENSP00000500017.1:p.Pro516Thr | |
| ENST00000673056.1:c.1546C>A | ENSP00000499989.1:p.Pro516Thr | |
| ENST00000673219.1:c.*1283C>A | ENSP00000499968.1:n.*1283C>A | |
| ENST00000673230.1:n.1577C>A | ||
| ENST00000673431.1:c.1411C>A | ENSP00000500552.1:p.Pro471Thr | |
| ENST00000673462.1:c.*292C>A | ENSP00000499848.1:n.*292C>A | |
| ENST00000242067.10:c.1546C>A | ENSP00000242067.6:p.Pro516Thr | |
| ENST00000350941.7:c.1432+3697C>A | ENSP00000313122.6:n.1432+3697C>A | |
| ENST00000355070.6:c.1537+1544C>A | ENSP00000347182.2:n.1537+1544C>A | |
| ENST00000396127.6:c.1441C>A | ENSP00000379433.2:p.Pro481Thr | |
| ENST00000433714.5:c.*307C>A | ENSP00000412159.1:n.*307C>A | |
| ENST00000434373.3:c.245C>A | ||
| ENST00000627264.1:c.123+818C>A | ||
| NM_001033604.1:c.1441C>A | NP_001028776.1:p.Pro481Thr | |
| NM_001033605.1:c.1537+1544C>A | NP_001028777.1:n.1537+1544C>A | |
| NM_014451.3:c.1432+3697C>A | NP_055266.2:n.1432+3697C>A | |
| NM_198428.2:c.1546C>A | NP_940820.1:p.Pro516Thr | |
| XM_005249700.3:c.1546C>A | XP_005249757.1:p.Pro516Thr | |
| XM_005249701.1:c.1546C>A | XP_005249758.1:p.Pro516Thr | |
| XM_011515264.1:c.1546C>A | XP_011513566.1:p.Pro516Thr | |
| XM_011515265.1:c.1546C>A | XP_011513567.1:p.Pro516Thr | |
| XM_011515266.1:c.1537+1544C>A | XP_011513568.1:n.1537+1544C>A | |
| XM_011515267.1:c.1441C>A | XP_011513569.1:p.Pro481Thr | |
| XM_011515268.1:c.1546C>A | XP_011513570.1:p.Pro516Thr | |
| XM_011515269.1:c.1273C>A | XP_011513571.1:p.Pro425Thr | |
| XM_011515270.1:c.1546C>A | XP_011513572.1:p.Pro516Thr | |
| NM_001348036.1:c.1546C>A | NP_001334965.1:p.Pro516Thr | |
| NM_001348037.2:c.1180C>A | NP_001334966.1:p.Pro394Thr | |
| NM_001348038.2:c.1273C>A | NP_001334967.1:p.Pro425Thr | |
| NM_001348039.2:c.1168C>A | NP_001334968.1:p.Pro390Thr | |
| NM_001348040.2:c.1432+3697C>A | NP_001334969.1:n.1432+3697C>A | |
| NM_001348041.3:c.1546C>A | NP_001334970.1:p.Pro516Thr | |
| NM_001348042.2:c.1411C>A | NP_001334971.1:p.Pro471Thr | |
| NM_001348043.2:c.1546C>A | NP_001334972.1:p.Pro516Thr | |
| NM_001348044.2:c.1075C>A | NP_001334973.1:p.Pro359Thr | |
| NM_001348045.2:c.1180C>A | NP_001334974.1:p.Pro394Thr | |
| NM_001348046.2:c.1180C>A | NP_001334975.1:p.Pro394Thr | |
| NM_001362679.1:c.1546C>A | NP_001349608.1:p.Pro516Thr | |
| NR_145411.1:n.1825C>A | ||
| NR_145412.1:n.2017C>A | ||
| NR_145413.2:n.2203C>A | ||
| XM_005249701.3:c.1546C>A | XP_005249758.1:p.Pro516Thr | |
| XM_011515265.2:c.1546C>A | XP_011513567.1:p.Pro516Thr | |
| XM_011515266.3:c.1537+1544C>A | XP_011513568.1:n.1537+1544C>A | |
| XM_011515267.3:c.1441C>A | XP_011513569.1:p.Pro481Thr | |
| XM_011515269.2:c.1273C>A | XP_011513571.1:p.Pro425Thr | |
| XM_011515270.3:c.1546C>A | XP_011513572.1:p.Pro516Thr | |
| XM_017011990.1:c.1537+1544C>A | XP_016867479.1:n.1537+1544C>A | |
| XM_017011994.2:c.1546C>A | XP_016867483.1:p.Pro516Thr | |
| NM_001348040.3:c.1432+3697C>A | NP_001334969.1:n.1432+3697C>A | |
| NM_001348041.4:c.1546C>A | NP_001334970.1:p.Pro516Thr | |
| NM_001348043.3:c.1546C>A | NP_001334972.1:p.Pro516Thr | |
| NM_198428.3:c.1546C>A MANE Select | NP_940820.1:p.Pro516Thr | |
| NM_001033604.2:c.1441C>A | NP_001028776.1:p.Pro481Thr | |
| NM_001033605.2:c.1537+1544C>A | NP_001028777.1:n.1537+1544C>A | |
| NM_001348037.3:c.1180C>A | NP_001334966.1:p.Pro394Thr | |
| NM_001348038.3:c.1273C>A | NP_001334967.1:p.Pro425Thr | |
| NM_001348039.3:c.1168C>A | NP_001334968.1:p.Pro390Thr | |
| NM_001348042.3:c.1411C>A | NP_001334971.1:p.Pro471Thr | |
| NM_001348044.3:c.1075C>A | NP_001334973.1:p.Pro359Thr | |
| NM_001348045.3:c.1180C>A | NP_001334974.1:p.Pro394Thr | |
| NM_001348046.3:c.1180C>A | NP_001334975.1:p.Pro394Thr | |
| NM_014451.4:c.1432+3697C>A | NP_055266.2:n.1432+3697C>A | |
| NR_145413.3:n.2179C>A |