Linked Data
dbSNP Id:
rs12279250
gnomAD v2:
11-21565079-T-C
gnomAD v3:
11-21543533-T-C
gnomAD v4:
11-21543533-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.21543533T>C , CM000673.2:g.21543533T>C | GRCh38 |
| NC_000011.9:g.21565079T>C , CM000673.1:g.21565079T>C | GRCh37 |
| NC_000011.8:g.21521655T>C | NCBI36 |
| NG_047064.1:g.878983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357134.10:c.1786+9019T>C MANE Select | ENSP00000349654.5:n.1786+9019T>C | |
| ENST00000298925.9:c.1870+9019T>C | ENSP00000298925.5:n.1870+9019T>C | |
| ENST00000325319.9:c.1615+9019T>C | ENSP00000317837.5:n.1615+9019T>C | |
| ENST00000357134.9:c.1786+9019T>C | ENSP00000349654.5:n.1786+9019T>C | |
| ENST00000529218.5:n.1140+9019T>C | ||
| ENST00000532434.5:c.1646-16656T>C | ENSP00000437170.1:n.1646-16656T>C | |
| ENST00000619031.4:c.1066+9019T>C | ENSP00000479479.1:n.1066+9019T>C | |
| NM_001288713.1:c.1870+9019T>C | NP_001275642.1:n.1870+9019T>C | |
| NM_001288714.1:c.1615+9019T>C | NP_001275643.1:n.1615+9019T>C | |
| NM_006157.4:c.1786+9019T>C | NP_006148.2:n.1786+9019T>C | |
| NM_201551.2:c.1646-16656T>C | NP_963845.1:n.1646-16656T>C | |
| XM_011520119.1:c.829+9019T>C | XP_011518421.1:n.829+9019T>C | |
| NM_006157.5:c.1786+9019T>C MANE Select | NP_006148.2:n.1786+9019T>C |