Linked Data
ClinVar Variation Id:
167697
ClinVar RCV Id:
RCV000153961
dbSNP Id:
rs377724489
ExAC:
5:131714068 A / C
gnomAD v2:
5-131714068-A-C
gnomAD v3:
5-132378376-A-C
gnomAD v4:
5-132378376-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132378376A>C , CM000667.2:g.132378376A>C | GRCh38 |
| NC_000005.9:g.131714068A>C , CM000667.1:g.131714068A>C | GRCh37 |
| NC_000005.8:g.131741967A>C | NCBI36 |
| NG_008982.1:g.13668A>C | |
| NG_008982.2:g.13673A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.394-2A>C | ENSP00000388838.2:n.394-2A>C | |
| ENST00000435065.7:c.466-2A>C | ENSP00000402760.2:n.466-2A>C | |
| ENST00000448810.6:c.394-2A>C | ENSP00000401860.2:n.394-2A>C | |
| ENST00000686757.1:c.394-2A>C | ENSP00000510721.1:n.394-2A>C | |
| ENST00000687740.1:n.528-2A>C | ||
| ENST00000689271.1:c.394-2A>C | ENSP00000510797.1:n.394-2A>C | |
| ENST00000690900.1:c.394-2A>C | ENSP00000510703.1:n.394-2A>C | |
| ENST00000692413.1:c.394-2A>C | ENSP00000509374.1:n.394-2A>C | |
| ENST00000692825.1:c.462-2A>C | ENSP00000509447.1:n.462-2A>C | |
| ENST00000693308.1:c.394-2A>C | ENSP00000509770.1:n.394-2A>C | |
| ENST00000693763.1:n.528-2A>C | ||
| ENST00000245407.8:c.394-2A>C MANE Select | ENSP00000245407.3:n.394-2A>C | |
| ENST00000245407.7:c.394-2A>C | ENSP00000245407.3:n.394-2A>C | |
| ENST00000415928.5:c.163-2A>C | ENSP00000388838.1:n.163-2A>C | |
| ENST00000435065.6:c.466-2A>C | ENSP00000402760.2:n.466-2A>C | |
| ENST00000437841.6:c.394-6952A>C | ENSP00000400553.1:n.394-6952A>C | |
| ENST00000461013.5:n.2151-2A>C | ||
| NM_001308122.1:c.466-2A>C | NP_001295051.1:n.466-2A>C | |
| NM_003060.3:c.394-2A>C | NP_003051.1:n.394-2A>C | |
| XR_427718.1:n.735-2A>C | ||
| XR_948290.1:n.735-2A>C | ||
| XR_948291.1:n.735-2A>C | ||
| XM_011543590.2:c.-238-2A>C | XP_011541892.1:n.-238-2A>C | |
| XM_017009778.2:c.-31-5771A>C | XP_016865267.1:n.-31-5771A>C | |
| XR_001742215.1:n.735-2A>C | ||
| XR_001742216.1:n.735-2A>C | ||
| XR_427718.2:n.735-2A>C | ||
| XR_948290.2:n.735-2A>C | ||
| XR_948291.2:n.735-2A>C | ||
| NM_003060.4:c.394-2A>C MANE Select | NP_003051.1:n.394-2A>C | |
| NM_001308122.2:c.466-2A>C | NP_001295051.1:n.466-2A>C |