Linked Data
dbSNP Id:
rs766553002
ExAC:
5:131720999 G / C
gnomAD v2:
5-131720999-G-C
gnomAD v3:
5-132385307-G-C
gnomAD v4:
5-132385307-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385307G>C , CM000667.2:g.132385307G>C | GRCh38 |
| NC_000005.9:g.131720999G>C , CM000667.1:g.131720999G>C | GRCh37 |
| NC_000005.8:g.131748898G>C | NCBI36 |
| NG_008982.1:g.20599G>C | |
| NG_008982.2:g.20604G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+993G>C | ENSP00000388838.2:n.665+993G>C | |
| ENST00000435065.7:c.725-21G>C | ENSP00000402760.2:n.725-21G>C | |
| ENST00000448810.6:c.653-21G>C | ENSP00000401860.2:n.653-21G>C | |
| ENST00000686757.1:c.672-21G>C | ENSP00000510721.1:n.672-21G>C | |
| ENST00000687740.1:n.1792G>C | ||
| ENST00000688151.1:n.1845-21G>C | ||
| ENST00000689271.1:c.671+987G>C | ENSP00000510797.1:n.671+987G>C | |
| ENST00000690900.1:c.672-69G>C | ENSP00000510703.1:n.672-69G>C | |
| ENST00000692212.1:n.458G>C | ||
| ENST00000692355.1:c.204+1006G>C | ||
| ENST00000692413.1:c.672-21G>C | ENSP00000509374.1:n.672-21G>C | |
| ENST00000692825.1:c.721-21G>C | ENSP00000509447.1:n.721-21G>C | |
| ENST00000693308.1:c.666-21G>C | ENSP00000509770.1:n.666-21G>C | |
| ENST00000693763.1:n.1792G>C | ||
| ENST00000245407.8:c.653-21G>C MANE Select | ENSP00000245407.3:n.653-21G>C | |
| ENST00000245407.7:c.653-21G>C | ENSP00000245407.3:n.653-21G>C | |
| ENST00000415928.5:c.422-21G>C | ENSP00000388838.1:n.422-21G>C | |
| ENST00000435065.6:c.725-21G>C | ENSP00000402760.2:n.725-21G>C | |
| ENST00000437841.6:c.394-21G>C | ENSP00000400553.1:n.394-21G>C | |
| ENST00000461013.5:n.8075-21G>C | ||
| NM_001308122.1:c.725-21G>C | NP_001295051.1:n.725-21G>C | |
| NM_003060.3:c.653-21G>C | NP_003051.1:n.653-21G>C | |
| XM_011543590.1:c.35-21G>C | XP_011541892.1:n.35-21G>C | |
| XR_427718.1:n.1013-21G>C | ||
| XR_948290.1:n.994-21G>C | ||
| XR_948291.1:n.1007-21G>C | ||
| XM_011543590.2:c.35-21G>C | XP_011541892.1:n.35-21G>C | |
| XM_017009778.2:c.125-21G>C | XP_016865267.1:n.125-21G>C | |
| XR_001742215.1:n.994-21G>C | ||
| XR_001742216.1:n.1013-21G>C | ||
| XR_427718.2:n.1013-21G>C | ||
| XR_948290.2:n.994-21G>C | ||
| XR_948291.2:n.1007-21G>C | ||
| NM_003060.4:c.653-21G>C MANE Select | NP_003051.1:n.653-21G>C | |
| NM_001308122.2:c.725-21G>C | NP_001295051.1:n.725-21G>C |