Linked Data
dbSNP Id:
rs8094794
gnomAD v2:
18-34252749-C-T
gnomAD v3:
18-36672786-C-T
gnomAD v4:
18-36672786-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36672786C>T , CM000680.2:g.36672786C>T | GRCh38 |
| NC_000018.9:g.34252749C>T , CM000680.1:g.34252749C>T | GRCh37 |
| NC_000018.8:g.32506747C>T | NCBI36 |
| NG_042837.1:g.380091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590592.6:c.1836-8650C>T MANE Select | ENSP00000466937.1:n.1836-8650C>T | |
| ENST00000257209.8:c.1311-8650C>T | ENSP00000257209.3:n.1311-8650C>T | |
| ENST00000359247.8:c.1311-8650C>T | ENSP00000352186.3:n.1311-8650C>T | |
| ENST00000589114.5:n.1430-8650C>T | ||
| ENST00000590592.5:c.1836-8650C>T | ENSP00000466937.1:n.1836-8650C>T | |
| ENST00000591635.5:c.276+14656C>T | ENSP00000467195.1:n.276+14656C>T | |
| ENST00000592930.5:c.592-8650C>T | ||
| NM_001281739.1:c.1311-8650C>T | NP_001268668.1:n.1311-8650C>T | |
| NM_001281739.2:c.1311-8650C>T | NP_001268668.1:n.1311-8650C>T | |
| NM_001281740.1:c.1836-8650C>T | NP_001268669.1:n.1836-8650C>T | |
| NM_001281740.2:c.1836-8650C>T | NP_001268669.1:n.1836-8650C>T | |
| NM_025135.3:c.1311-8650C>T | NP_079411.2:n.1311-8650C>T | |
| NM_025135.4:c.1311-8650C>T | NP_079411.2:n.1311-8650C>T | |
| XM_005258349.1:c.1647-8650C>T | XP_005258406.1:n.1647-8650C>T | |
| XM_005258352.1:c.1311-8650C>T | XP_005258409.1:n.1311-8650C>T | |
| XM_005258354.1:c.1197-8650C>T | XP_005258411.1:n.1197-8650C>T | |
| XM_005258355.1:c.1197-8650C>T | XP_005258412.1:n.1197-8650C>T | |
| XM_011526189.1:c.1836-8487C>T | XP_011524491.1:n.1836-8487C>T | |
| XM_011526190.1:c.1836-8487C>T | XP_011524492.1:n.1836-8487C>T | |
| XM_011526191.1:c.1836-8487C>T | XP_011524493.1:n.1836-8487C>T | |
| XM_011526192.1:c.1761-8487C>T | XP_011524494.1:n.1761-8487C>T | |
| XM_011526193.1:c.1836-8487C>T | XP_011524495.1:n.1836-8487C>T | |
| XM_011526194.1:c.1602-8487C>T | XP_011524496.1:n.1602-8487C>T | |
| XM_011526195.1:c.1836-8487C>T | XP_011524497.1:n.1836-8487C>T | |
| XM_011526196.1:c.1311-8487C>T | XP_011524498.1:n.1311-8487C>T | |
| XM_011526197.1:c.1761-8487C>T | XP_011524499.1:n.1761-8487C>T | |
| XM_005258355.2:c.1197-8650C>T | XP_005258412.1:n.1197-8650C>T | |
| XM_011526190.2:c.1836-8487C>T | XP_011524492.1:n.1836-8487C>T | |
| XM_011526193.3:c.1836-8487C>T | XP_011524495.1:n.1836-8487C>T | |
| XM_017026006.2:c.1836-8487C>T | XP_016881495.1:n.1836-8487C>T | |
| XM_017026007.1:c.1581-8487C>T | XP_016881496.1:n.1581-8487C>T | |
| XM_017026008.1:c.1836-8487C>T | XP_016881497.1:n.1836-8487C>T | |
| XM_017026009.1:c.1311-8650C>T | XP_016881498.1:n.1311-8650C>T | |
| XM_017026010.1:c.1602-8487C>T | XP_016881499.1:n.1602-8487C>T | |
| XM_024451268.1:c.1311-8487C>T | XP_024307036.1:n.1311-8487C>T | |
| NM_001281739.3:c.1311-8650C>T | NP_001268668.1:n.1311-8650C>T | |
| NM_001281740.3:c.1836-8650C>T MANE Select | NP_001268669.1:n.1836-8650C>T | |
| NM_025135.5:c.1311-8650C>T | NP_079411.2:n.1311-8650C>T |