Linked Data
dbSNP Id:
rs11618202
gnomAD v2:
13-31113379-T-G
gnomAD v3:
13-30539242-T-G
gnomAD v4:
13-30539242-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30539242T>G , CM000675.2:g.30539242T>G | GRCh38 |
| NC_000013.10:g.31113379T>G , CM000675.1:g.31113379T>G | GRCh37 |
| NC_000013.9:g.30011379T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405805.5:c.-14-75548A>C | ENSP00000384678.1:n.-14-75548A>C | |
| NM_001313893.1:c.-14-75548A>C | NP_001300822.1:n.-14-75548A>C | |
| XM_024449340.1:c.-14-75548A>C | XP_024305108.1:n.-14-75548A>C | |
| NM_001370340.1:c.-14-75548A>C | NP_001357269.1:n.-14-75548A>C |