Linked Data
dbSNP Id:
rs540288649
ExAC:
10:96827016 G / C
gnomAD v2:
10-96827016-G-C
gnomAD v3:
10-95067259-G-C
gnomAD v4:
10-95067259-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067259G>C , CM000672.2:g.95067259G>C | GRCh38 |
| NC_000010.10:g.96827016G>C , CM000672.1:g.96827016G>C | GRCh37 |
| NC_000010.9:g.96817006G>C | NCBI36 |
| NG_007972.1:g.7239C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.430C>G MANE Select | ENSP00000360317.3:p.Arg144Gly | |
| ENST00000371270.5:c.430C>G | ENSP00000360317.3:p.Arg144Gly | |
| ENST00000479946.2:n.734C>G | ||
| ENST00000490994.6:c.*216C>G | ENSP00000433314.1:n.*216C>G | |
| ENST00000525991.5:c.*5C>G | ENSP00000433842.1:n.*5C>G | |
| ENST00000526814.5:n.685C>G | ||
| ENST00000527420.5:c.430C>G | ENSP00000433191.1:p.Arg144Gly | |
| ENST00000527953.5:n.685C>G | ||
| ENST00000533320.5:n.664C>G | ||
| ENST00000535898.5:c.124C>G | ENSP00000445062.1:p.Arg42Gly | |
| ENST00000539050.5:c.220C>G | ENSP00000442343.2:p.Arg74Gly | |
| ENST00000623108.3:c.220C>G | ENSP00000485110.1:p.Arg74Gly | |
| ENST00000628935.1:c.172C>G | ENSP00000487145.1:p.Arg58Gly | |
| NM_000770.3:c.430C>G MANE Select | NP_000761.3:p.Arg144Gly | |
| NM_001198853.1:c.220C>G | NP_001185782.1:p.Arg74Gly | |
| NM_001198854.1:c.124C>G | NP_001185783.1:p.Arg42Gly | |
| NM_001198855.1:c.220C>G | NP_001185784.1:p.Arg74Gly | |
| XR_945610.1:n.526C>G |