Linked Data
ClinVar Variation Id:
166834
ClinVar RCV Id:
RCV000152976
RCV000291841
RCV000344957
RCV000346891
RCV000399776
RCV000400108
RCV001085341
RCV003888583
dbSNP Id:
rs73192874
ExAC:
12:88474130 C / T
gnomAD v2:
12-88474130-C-T
gnomAD v3:
12-88080353-C-T
gnomAD v4:
12-88080353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88080353C>T , CM000674.2:g.88080353C>T | GRCh38 |
| NC_000012.11:g.88474130C>T , CM000674.1:g.88474130C>T | GRCh37 |
| NC_000012.10:g.86998261C>T | NCBI36 |
| NG_008417.1:g.66864G>A | |
| NG_008417.2:g.66864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5055G>A | ENSP00000308021.8:p.Ala1685= | |
| ENST00000547691.8:c.2339G>A | ||
| ENST00000552810.6:c.5055G>A MANE Select | ENSP00000448012.1:p.Ala1685= | |
| ENST00000672414.2:c.*3226G>A | ENSP00000500729.1:n.*3226G>A | |
| ENST00000672647.1:n.3415G>A | ||
| ENST00000673058.2:c.5055G>A | ENSP00000500665.2:p.Ala1685= | |
| ENST00000674971.1:c.5055G>A | ENSP00000502194.1:p.Ala1685= | |
| ENST00000675230.1:c.5034G>A | ENSP00000502503.1:p.Ala1678= | |
| ENST00000675408.1:c.5055G>A | ENSP00000502298.1:p.Ala1685= | |
| ENST00000675476.1:c.5916G>A | ENSP00000502161.1:p.Ala1972= | |
| ENST00000675628.1:n.5282G>A | ||
| ENST00000675794.1:c.*3226G>A | ENSP00000502841.1:n.*3226G>A | |
| ENST00000675833.1:c.5823G>A | ENSP00000502559.1:p.Ala1941= | |
| ENST00000675894.1:n.1360G>A | ||
| ENST00000676074.1:c.5055G>A | ENSP00000502079.1:p.Ala1685= | |
| ENST00000676181.1:n.3983G>A | ||
| ENST00000676363.1:n.10781G>A | ||
| ENST00000676448.1:c.*2968G>A | ENSP00000501987.1:n.*2968G>A | |
| ENST00000309041.11:c.5061G>A | ENSP00000308021.7:p.Ala1687= | |
| ENST00000547691.6:c.2235G>A | ENSP00000446905.1:p.Ala745= | |
| ENST00000552810.5:c.5055G>A | ENSP00000448012.1:p.Ala1685= | |
| NM_025114.3:c.5055G>A | NP_079390.3:p.Ala1685= | |
| XM_011538756.1:c.5916G>A | XP_011537058.1:p.Ala1972= | |
| XM_011538757.1:c.5916G>A | XP_011537059.1:p.Ala1972= | |
| XM_011538758.1:c.5916G>A | XP_011537060.1:p.Ala1972= | |
| XM_011538759.1:c.5916G>A | XP_011537061.1:p.Ala1972= | |
| XM_011538760.1:c.5916G>A | XP_011537062.1:p.Ala1972= | |
| XM_011538761.1:c.5916G>A | XP_011537063.1:p.Ala1972= | |
| XM_011538762.1:c.5148G>A | XP_011537064.1:p.Ala1716= | |
| XM_011538763.1:c.5055G>A | XP_011537065.1:p.Ala1685= | |
| XM_011538764.1:c.5916G>A | XP_011537066.1:p.Ala1972= | |
| XM_011538765.1:c.5916G>A | XP_011537067.1:p.Ala1972= | |
| XM_011538766.1:c.4377G>A | XP_011537068.1:p.Ala1459= | |
| XR_945163.1:n.968-1960C>T | ||
| XM_011538756.3:c.5916G>A | XP_011537058.1:p.Ala1972= | |
| XM_011538757.3:c.5916G>A | XP_011537059.1:p.Ala1972= | |
| XM_011538758.3:c.5916G>A | XP_011537060.1:p.Ala1972= | |
| XM_011538759.2:c.5916G>A | XP_011537061.1:p.Ala1972= | |
| XM_011538760.2:c.5916G>A | XP_011537062.1:p.Ala1972= | |
| XM_011538761.2:c.5916G>A | XP_011537063.1:p.Ala1972= | |
| XM_011538762.3:c.5148G>A | XP_011537064.1:p.Ala1716= | |
| XM_011538763.3:c.5055G>A | XP_011537065.1:p.Ala1685= | |
| XM_011538764.3:c.5916G>A | XP_011537066.1:p.Ala1972= | |
| XM_011538765.3:c.5916G>A | XP_011537067.1:p.Ala1972= | |
| XM_011538766.3:c.4377G>A | XP_011537068.1:p.Ala1459= | |
| XM_017019980.2:c.5916G>A | XP_016875469.1:p.Ala1972= | |
| XM_017019981.2:c.5916G>A | XP_016875470.1:p.Ala1972= | |
| XM_017019982.1:c.5916G>A | XP_016875471.1:p.Ala1972= | |
| XM_017019983.2:c.5034G>A | XP_016875472.1:p.Ala1678= | |
| XR_001748869.1:n.6260G>A | ||
| XR_001748870.2:n.6260G>A | ||
| NM_025114.4:c.5055G>A MANE Select | NP_079390.3:p.Ala1685= |