Linked Data
dbSNP Id:
rs2286276
gnomAD v2:
7-72987354-C-T
gnomAD v3:
7-73573024-C-T
gnomAD v4:
7-73573024-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73573024C>T , CM000669.2:g.73573024C>T | GRCh38 |
| NC_000007.13:g.72987354C>T , CM000669.1:g.72987354C>T | GRCh37 |
| NC_000007.12:g.72625290C>T | NCBI36 |
| NG_023281.1:g.10660G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305632.11:c.599-54G>A MANE Select | ENSP00000307260.4:n.599-54G>A | |
| ENST00000305632.9:c.599-54G>A | ENSP00000307260.4:n.599-54G>A | |
| ENST00000417008.5:c.*336-54G>A | ENSP00000407503.1:n.*336-54G>A | |
| ENST00000424598.5:c.*516-54G>A | ENSP00000398195.1:n.*516-54G>A | |
| ENST00000426966.5:c.*532-54G>A | ENSP00000410737.1:n.*532-54G>A | |
| ENST00000432538.5:c.491-54G>A | ENSP00000413979.1:n.491-54G>A | |
| ENST00000433464.5:c.*208-54G>A | ENSP00000404242.1:n.*208-54G>A | |
| ENST00000435792.5:c.*725-54G>A | ENSP00000408255.1:n.*725-54G>A | |
| ENST00000437521.5:c.*532-54G>A | ENSP00000400569.1:n.*532-54G>A | |
| ENST00000450285.5:c.*45-54G>A | ENSP00000409820.1:n.*45-54G>A | |
| ENST00000452475.5:n.684-54G>A | ||
| ENST00000459913.5:n.766-54G>A | ||
| ENST00000495885.1:n.309G>A | ||
| ENST00000610724.4:c.599-54G>A | ENSP00000484750.1:n.599-54G>A | |
| NM_012453.2:c.599-54G>A | NP_036585.1:n.599-54G>A | |
| XM_006715923.2:c.500-54G>A | XP_006715986.1:n.500-54G>A | |
| XM_011516026.1:c.491-54G>A | XP_011514328.1:n.491-54G>A | |
| XM_011516027.1:c.104-54G>A | XP_011514329.1:n.104-54G>A | |
| NM_001362660.1:c.500-54G>A | NP_001349589.1:n.500-54G>A | |
| NM_001362661.1:c.104-54G>A | NP_001349590.1:n.104-54G>A | |
| NM_001362662.1:c.104-54G>A | NP_001349591.1:n.104-54G>A | |
| NM_001362663.1:c.104-54G>A | NP_001349592.1:n.104-54G>A | |
| NM_012453.3:c.599-54G>A | NP_036585.1:n.599-54G>A | |
| XM_006715923.4:c.500-54G>A | XP_006715986.1:n.500-54G>A | |
| XM_024446709.1:c.500-54G>A | XP_024302477.1:n.500-54G>A | |
| XM_024446712.1:c.104-54G>A | XP_024302480.1:n.104-54G>A | |
| XR_001744627.2:n.655-54G>A | ||
| NM_001362660.2:c.500-54G>A | NP_001349589.1:n.500-54G>A | |
| NM_001362661.2:c.104-54G>A | NP_001349590.1:n.104-54G>A | |
| NM_001362662.2:c.104-54G>A | NP_001349591.1:n.104-54G>A | |
| NM_001362663.2:c.104-54G>A | NP_001349592.1:n.104-54G>A | |
| NM_012453.4:c.599-54G>A MANE Select | NP_036585.1:n.599-54G>A |