Linked Data
dbSNP Id:
rs949037
gnomAD v2:
18-60979013-G-A
gnomAD v3:
18-63311780-G-A
gnomAD v4:
18-63311780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63311780G>A , CM000680.2:g.63311780G>A | GRCh38 |
| NC_000018.9:g.60979013G>A , CM000680.1:g.60979013G>A | GRCh37 |
| NC_000018.8:g.59129993G>A | NCBI36 |
| NG_009361.1:g.12601C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333681.5:c.585+6302C>T MANE Select | ENSP00000329623.3:n.585+6302C>T | |
| ENST00000677227.1:c.585+6302C>T | ENSP00000504566.1:n.585+6302C>T | |
| ENST00000678134.1:c.585+6302C>T | ENSP00000503628.1:n.585+6302C>T | |
| ENST00000678349.1:c.1137+5750C>T | ENSP00000504190.1:n.1137+5750C>T | |
| ENST00000333681.4:c.585+6302C>T | ENSP00000329623.3:n.585+6302C>T | |
| ENST00000398117.1:c.585+6302C>T | ENSP00000381185.1:n.585+6302C>T | |
| NM_000633.2:c.585+6302C>T | NP_000624.2:n.585+6302C>T | |
| XM_011526135.1:c.585+6302C>T | XP_011524437.1:n.585+6302C>T | |
| XR_935246.1:n.1697+6302C>T | ||
| XR_935247.1:n.1697+6302C>T | ||
| XR_935248.1:n.1476+6302C>T | ||
| XM_011526135.3:c.585+6302C>T | XP_011524437.1:n.585+6302C>T | |
| XM_017025917.2:c.585+6302C>T | XP_016881406.1:n.585+6302C>T | |
| XR_935248.3:n.1978+6302C>T | ||
| NM_000633.3:c.585+6302C>T MANE Select | NP_000624.2:n.585+6302C>T |