Linked Data
ClinVar Variation Id:
1134396
ClinVar RCV Id:
RCV001469305
dbSNP Id:
rs377069432
ExAC:
5:131726372 T / C
gnomAD v2:
5-131726372-T-C
gnomAD v3:
5-132390680-T-C
gnomAD v4:
5-132390680-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390680T>C , CM000667.2:g.132390680T>C | GRCh38 |
| NC_000005.9:g.131726372T>C , CM000667.1:g.131726372T>C | GRCh37 |
| NC_000005.8:g.131754271T>C | NCBI36 |
| NG_008982.1:g.25972T>C | |
| NG_008982.2:g.25977T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.894-10T>C | ENSP00000388838.2:n.894-10T>C | |
| ENST00000435065.7:c.1125-10T>C | ENSP00000402760.2:n.1125-10T>C | |
| ENST00000448810.6:c.1053-96T>C | ENSP00000401860.2:n.1053-96T>C | |
| ENST00000685543.1:n.1194-10T>C | ||
| ENST00000686757.1:c.*217-10T>C | ENSP00000510721.1:n.*217-10T>C | |
| ENST00000687740.1:n.3738-10T>C | ||
| ENST00000688151.1:n.2363-10T>C | ||
| ENST00000689271.1:c.900-10T>C | ENSP00000510797.1:n.900-10T>C | |
| ENST00000690900.1:c.*217-10T>C | ENSP00000510703.1:n.*217-10T>C | |
| ENST00000692212.1:n.2655T>C | ||
| ENST00000692355.1:c.306-10T>C | ||
| ENST00000692413.1:c.1035-10T>C | ENSP00000509374.1:n.1035-10T>C | |
| ENST00000692825.1:c.1121-10T>C | ENSP00000509447.1:n.1121-10T>C | |
| ENST00000693308.1:c.1101-10T>C | ENSP00000509770.1:n.1101-10T>C | |
| ENST00000693763.1:n.2213-10T>C | ||
| ENST00000245407.8:c.1053-10T>C MANE Select | ENSP00000245407.3:n.1053-10T>C | |
| ENST00000245407.7:c.1053-10T>C | ENSP00000245407.3:n.1053-10T>C | |
| ENST00000435065.6:c.1125-10T>C | ENSP00000402760.2:n.1125-10T>C | |
| ENST00000447841.5:c.111+1659T>C | ||
| ENST00000448810.5:c.401-96T>C | ||
| ENST00000461013.5:n.8475-10T>C | ||
| ENST00000475308.1:n.1721T>C | ||
| ENST00000479605.5:n.156-10T>C | ||
| NM_001308122.1:c.1125-10T>C | NP_001295051.1:n.1125-10T>C | |
| NM_003060.3:c.1053-10T>C | NP_003051.1:n.1053-10T>C | |
| XM_011543590.1:c.435-10T>C | XP_011541892.1:n.435-10T>C | |
| XR_427718.1:n.1413-10T>C | ||
| XR_948290.1:n.1393+1659T>C | ||
| XR_948291.1:n.1407-10T>C | ||
| XM_011543590.2:c.435-10T>C | XP_011541892.1:n.435-10T>C | |
| XM_017009778.2:c.525-10T>C | XP_016865267.1:n.525-10T>C | |
| XR_001742215.1:n.1394-96T>C | ||
| XR_001742216.1:n.1413-96T>C | ||
| XR_427718.2:n.1413-10T>C | ||
| XR_948290.2:n.1393+1659T>C | ||
| XR_948291.2:n.1407-10T>C | ||
| NM_003060.4:c.1053-10T>C MANE Select | NP_003051.1:n.1053-10T>C | |
| NM_001308122.2:c.1125-10T>C | NP_001295051.1:n.1125-10T>C |