Linked Data
ClinVar Variation Id:
1400850
ClinVar RCV Id:
RCV001911521
dbSNP Id:
rs767240544
ExAC:
5:131726425 C / T
gnomAD v2:
5-131726425-C-T
gnomAD v4:
5-132390733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390733C>T , CM000667.2:g.132390733C>T | GRCh38 |
| NC_000005.9:g.131726425C>T , CM000667.1:g.131726425C>T | GRCh37 |
| NC_000005.8:g.131754324C>T | NCBI36 |
| NG_008982.1:g.26025C>T | |
| NG_008982.2:g.26030C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.937C>T | ENSP00000388838.2:p.Pro313Ser | |
| ENST00000435065.7:c.1168C>T | ENSP00000402760.2:p.Pro390Ser | |
| ENST00000448810.6:c.1053-43C>T | ENSP00000401860.2:n.1053-43C>T | |
| ENST00000685543.1:n.1237C>T | ||
| ENST00000686757.1:c.*260C>T | ENSP00000510721.1:n.*260C>T | |
| ENST00000687740.1:n.3781C>T | ||
| ENST00000688151.1:n.2406C>T | ||
| ENST00000689271.1:c.943C>T | ENSP00000510797.1:p.Pro315Ser | |
| ENST00000690900.1:c.*260C>T | ENSP00000510703.1:n.*260C>T | |
| ENST00000692212.1:n.2708C>T | ||
| ENST00000692355.1:c.349C>T | ||
| ENST00000692413.1:c.1078C>T | ENSP00000509374.1:p.Pro360Ser | |
| ENST00000692825.1:c.1164C>T | ENSP00000509447.1:n.1164C>T | |
| ENST00000693308.1:c.1144C>T | ENSP00000509770.1:p.Pro382Ser | |
| ENST00000693763.1:n.2256C>T | ||
| ENST00000245407.8:c.1096C>T MANE Select | ENSP00000245407.3:p.Pro366Ser | |
| ENST00000245407.7:c.1096C>T | ENSP00000245407.3:p.Pro366Ser | |
| ENST00000435065.6:c.1168C>T | ENSP00000402760.2:p.Pro390Ser | |
| ENST00000447841.5:c.112-1700C>T | ||
| ENST00000448810.5:c.401-43C>T | ||
| ENST00000461013.5:n.8518C>T | ||
| ENST00000475308.1:n.1774C>T | ||
| ENST00000479605.5:n.199C>T | ||
| NM_001308122.1:c.1168C>T | NP_001295051.1:p.Pro390Ser | |
| NM_003060.3:c.1096C>T | NP_003051.1:p.Pro366Ser | |
| XM_011543590.1:c.478C>T | XP_011541892.1:p.Pro160Ser | |
| XR_427718.1:n.1456C>T | ||
| XR_948290.1:n.1394-1700C>T | ||
| XR_948291.1:n.1450C>T | ||
| XM_011543590.2:c.478C>T | XP_011541892.1:p.Pro160Ser | |
| XM_017009778.2:c.568C>T | XP_016865267.1:p.Pro190Ser | |
| XR_001742215.1:n.1394-43C>T | ||
| XR_001742216.1:n.1413-43C>T | ||
| XR_427718.2:n.1456C>T | ||
| XR_948290.2:n.1394-1700C>T | ||
| XR_948291.2:n.1450C>T | ||
| NM_003060.4:c.1096C>T MANE Select | NP_003051.1:p.Pro366Ser | |
| NM_001308122.2:c.1168C>T | NP_001295051.1:p.Pro390Ser |