Linked Data
dbSNP Id:
rs924748929
gnomAD v2:
5-1395092-T-C
gnomAD v3:
5-1394977-T-C
gnomAD v4:
5-1394977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394977T>C , CM000667.2:g.1394977T>C | GRCh38 |
| NC_000005.9:g.1395092T>C , CM000667.1:g.1395092T>C | GRCh37 |
| NC_000005.8:g.1448092T>C | NCBI36 |
| NG_015885.1:g.55452A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1840-219A>G MANE Select | ENSP00000270349.9:n.1840-219A>G | |
| ENST00000270349.11:c.1840-219A>G | ENSP00000270349.9:n.1840-219A>G | |
| ENST00000512002.2:n.221-219A>G | ||
| NM_001044.4:c.1840-219A>G | NP_001035.1:n.1840-219A>G | |
| NM_001044.5:c.1840-219A>G MANE Select | NP_001035.1:n.1840-219A>G |