Linked Data
dbSNP Id:
rs200592330
ExAC:
7:5569061 C / T
gnomAD v2:
7-5569061-C-T
gnomAD v3:
7-5529430-C-T
gnomAD v4:
7-5529430-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5529430C>T , CM000669.2:g.5529430C>T | GRCh38 |
| NC_000007.13:g.5569061C>T , CM000669.1:g.5569061C>T | GRCh37 |
| NC_000007.12:g.5535587C>T | NCBI36 |
| NG_007992.1:g.6172G>A , LRG_132:g.6172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417101.2:c.124-30G>A | ENSP00000399487.2:n.124-30G>A | |
| ENST00000432588.6:c.124-30G>A | ENSP00000407473.2:n.124-30G>A | |
| ENST00000473257.3:c.-6-30G>A | ENSP00000501773.1:n.-6-30G>A | |
| ENST00000477812.2:n.301G>A | ||
| ENST00000484841.6:n.278-30G>A | ||
| ENST00000493945.6:c.124-30G>A | ENSP00000494269.1:n.124-30G>A | |
| ENST00000642480.2:c.124-30G>A | ENSP00000495995.2:n.124-30G>A | |
| ENST00000645025.1:n.207-30G>A | ||
| ENST00000645576.1:c.124-30G>A | ENSP00000496101.1:n.124-30G>A | |
| ENST00000646664.1:c.124-30G>A MANE Select | ENSP00000494750.1:n.124-30G>A | |
| ENST00000647275.1:c.-3-711G>A | ENSP00000494185.1:n.-3-711G>A | |
| ENST00000674681.1:c.124-30G>A | ENSP00000502821.1:n.124-30G>A | |
| ENST00000675515.1:c.124-30G>A | ENSP00000501862.1:n.124-30G>A | |
| ENST00000676189.1:c.124-30G>A | ENSP00000502538.1:n.124-30G>A | |
| ENST00000676319.1:c.87+141G>A | ENSP00000502193.1:n.87+141G>A | |
| ENST00000676397.1:c.124-30G>A | ENSP00000502286.1:n.124-30G>A | |
| ENST00000331789.9:c.124-30G>A | ENSP00000349960.4:n.124-30G>A | |
| ENST00000414620.1:c.124-30G>A | ENSP00000401032.1:n.124-30G>A | |
| ENST00000417101.1:c.133-30G>A | ENSP00000399487.1:n.133-30G>A | |
| ENST00000425660.5:c.124-30G>A | ENSP00000409264.1:n.124-30G>A | |
| ENST00000432588.5:c.124-30G>A | ENSP00000407473.1:n.124-30G>A | |
| ENST00000443528.5:c.124-30G>A | ENSP00000393951.1:n.124-30G>A | |
| ENST00000462494.5:n.208-30G>A | ||
| ENST00000473257.1:n.82-711G>A | ||
| ENST00000477812.1:n.301G>A | ||
| ENST00000480301.1:n.294G>A | ||
| ENST00000484841.5:n.279-30G>A | ||
| ENST00000493945.5:n.130-30G>A | ||
| NM_001101.3:c.124-30G>A , LRG_132t1:c.124-30G>A | NP_001092.1:n.124-30G>A | |
| NM_001101.4:c.124-30G>A | NP_001092.1:n.124-30G>A | |
| NM_001101.5:c.124-30G>A MANE Select | NP_001092.1:n.124-30G>A |