Linked Data
dbSNP Id:
rs2298585
ExAC:
11:59837192 C / T
gnomAD v2:
11-59837192-C-T
gnomAD v3:
11-60069719-C-T
gnomAD v4:
11-60069719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60069719C>T , CM000673.2:g.60069719C>T | GRCh38 |
| NC_000011.9:g.59837192C>T , CM000673.1:g.59837192C>T | GRCh37 |
| NC_000011.8:g.59593768C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278865.8:c.615+44C>T MANE Select | ENSP00000278865.3:n.615+44C>T | |
| ENST00000278865.7:c.615+44C>T | ENSP00000278865.3:n.615+44C>T | |
| ENST00000358152.6:c.477+44C>T | ENSP00000350872.2:n.477+44C>T | |
| ENST00000395032.6:c.246+44C>T | ENSP00000378473.2:n.246+44C>T | |
| ENST00000525686.1:c.*290+44C>T | ENSP00000434109.1:n.*290+44C>T | |
| ENST00000528952.1:n.145+44C>T | ||
| ENST00000534744.1:c.477+44C>T | ENSP00000434117.1:n.477+44C>T | |
| NM_001031666.1:c.246+44C>T | NP_001026836.1:n.246+44C>T | |
| NM_001031809.1:c.477+44C>T | NP_001026979.1:n.477+44C>T | |
| NM_006138.4:c.615+44C>T | NP_006129.4:n.615+44C>T | |
| XM_011545363.1:c.435+44C>T | XP_011543665.1:n.435+44C>T | |
| XM_011545363.3:c.435+44C>T | XP_011543665.1:n.435+44C>T | |
| NM_006138.5:c.615+44C>T MANE Select | NP_006129.4:n.615+44C>T | |
| NM_001031666.2:c.246+44C>T | NP_001026836.1:n.246+44C>T | |
| NM_001031809.2:c.477+44C>T | NP_001026979.1:n.477+44C>T |