Linked Data
dbSNP Id:
rs13214487
gnomAD v2:
6-31322706-C-G
gnomAD v3:
6-31354929-C-G
gnomAD v4:
6-31354929-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354929C>G , CM000668.2:g.31354929C>G | GRCh38 |
| NC_000006.11:g.31322706C>G , CM000668.1:g.31322706C>G | GRCh37 |
| NC_000006.10:g.31430685C>G | NCBI36 |
| NG_023187.1:g.7284G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3059+178G>C | ||
| ENST00000481849.6:n.2756G>C | ||
| ENST00000497377.6:n.2663G>C | ||
| ENST00000640094.2:c.896-264G>C | ENSP00000491275.2:n.896-264G>C | |
| ENST00000696558.1:c.1081+178G>C | ENSP00000512716.1:n.1081+178G>C | |
| ENST00000696559.1:c.1012+178G>C | ENSP00000512717.1:n.1012+178G>C | |
| ENST00000696560.1:c.1012+178G>C | ENSP00000512718.1:n.1012+178G>C | |
| ENST00000696561.1:c.1012+178G>C | ENSP00000512719.1:n.1012+178G>C | |
| ENST00000696562.1:c.1012+178G>C | ENSP00000512720.1:n.1012+178G>C | |
| ENST00000412585.7:c.1012+178G>C MANE Select | ENSP00000399168.2:n.1012+178G>C | |
| ENST00000640094.1:c.89-264G>C | ENSP00000491275.1:n.89-264G>C | |
| ENST00000412585.6:c.1012+178G>C | ENSP00000399168.2:n.1012+178G>C | |
| ENST00000497377.5:n.148G>C | ||
| NM_005514.6:c.1012+178G>C | NP_005505.2:n.1012+178G>C | |
| XM_011514556.1:c.1045+178G>C | XP_011512858.1:n.1045+178G>C | |
| XM_011514557.1:c.896-264G>C | XP_011512859.1:n.896-264G>C | |
| XR_926175.1:n.1451+178G>C | ||
| NM_005514.7:c.1012+178G>C | NP_005505.2:n.1012+178G>C | |
| NM_005514.8:c.1012+178G>C MANE Select | NP_005505.2:n.1012+178G>C |