Linked Data
dbSNP Id:
rs11066015
gnomAD v2:
12-112168009-G-A
gnomAD v3:
12-111730205-G-A
gnomAD v4:
12-111730205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111730205G>A , CM000674.2:g.111730205G>A | GRCh38 |
| NC_000012.11:g.112168009G>A , CM000674.1:g.112168009G>A | GRCh37 |
| NC_000012.10:g.110652392G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313698.9:c.1394+249G>A MANE Select | ENSP00000325137.5:n.1394+249G>A | |
| ENST00000313698.8:c.1394+249G>A | ENSP00000325137.4:n.1394+249G>A | |
| ENST00000413681.7:n.1579+249G>A | ||
| ENST00000455480.6:c.1487+249G>A | ENSP00000389813.2:n.1487+249G>A | |
| ENST00000507683.1:c.527+2062G>A | ||
| ENST00000508303.5:n.544+249G>A | ||
| ENST00000515283.1:c.-107-14438G>A | ENSP00000449097.1:n.-107-14438G>A | |
| ENST00000549590.5:c.1394+249G>A | ENSP00000446959.1:n.1394+249G>A | |
| ENST00000552706.6:c.553+2062G>A | ENSP00000447561.2:n.553+2062G>A | |
| NM_001136538.1:c.1487+249G>A | NP_001130010.1:n.1487+249G>A | |
| NM_025247.5:c.1394+249G>A | NP_079523.3:n.1394+249G>A | |
| NM_001136538.2:c.1487+249G>A | NP_001130010.1:n.1487+249G>A | |
| NM_025247.6:c.1394+249G>A MANE Select | NP_079523.3:n.1394+249G>A |