Linked Data
dbSNP Id:
rs544860165
gnomAD v2:
14-81534538-T-C
gnomAD v3:
14-81068194-T-C
gnomAD v4:
14-81068194-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81068194T>C , CM000676.2:g.81068194T>C | GRCh38 |
| NC_000014.8:g.81534538T>C , CM000676.1:g.81534538T>C | GRCh37 |
| NC_000014.7:g.80604291T>C | NCBI36 |
| NG_009206.1:g.117670T>C , LRG_523:g.117670T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.243-60T>C MANE Select | ENSP00000298171.2:n.243-60T>C | |
| ENST00000298171.6:c.243-60T>C | ENSP00000298171.2:n.243-60T>C | |
| ENST00000342443.10:c.243-60T>C | ENSP00000340113.6:n.243-60T>C | |
| ENST00000541158.6:c.243-60T>C | ENSP00000441235.2:n.243-60T>C | |
| ENST00000553763.1:n.343-60T>C | ||
| ENST00000554263.5:c.243-60T>C | ENSP00000451202.1:n.243-60T>C | |
| ENST00000554435.1:c.243-60T>C | ENSP00000450549.1:n.243-60T>C | |
| ENST00000555326.5:c.243-60T>C | ENSP00000451092.1:n.243-60T>C | |
| NM_000369.2:c.243-60T>C , LRG_523t1:c.243-60T>C | NP_000360.2:n.243-60T>C | |
| NM_001018036.2:c.243-60T>C | NP_001018046.1:n.243-60T>C | |
| NM_001142626.2:c.243-60T>C | NP_001136098.1:n.243-60T>C | |
| XM_005268037.3:c.243-60T>C | XP_005268094.1:n.243-60T>C | |
| XM_005268039.1:c.243-60T>C | XP_005268096.1:n.243-60T>C | |
| XM_006720245.1:c.243-60T>C | XP_006720308.1:n.243-60T>C | |
| XM_011537119.1:c.-86-60T>C | XP_011535421.1:n.-86-60T>C | |
| XR_245790.3:n.3676-14378A>G | ||
| XR_944075.1:n.2549-14378A>G | ||
| XR_944076.1:n.1442-14378A>G | ||
| XR_944077.1:n.2455-14378A>G | ||
| XR_944078.1:n.2455-14378A>G | ||
| XM_005268037.4:c.243-60T>C | XP_005268094.1:n.243-60T>C | |
| XM_011537119.2:c.-86-60T>C | XP_011535421.1:n.-86-60T>C | |
| XR_001751018.2:n.1989-14378A>G | ||
| XR_001751019.2:n.1895-14378A>G | ||
| XR_001751020.2:n.886-14378A>G | ||
| XR_001751021.1:n.4437-14378A>G | ||
| XR_001751022.1:n.3334-14378A>G | ||
| XR_001751023.1:n.4476-14378A>G | ||
| XR_001751024.2:n.1989-14378A>G | ||
| XR_944075.3:n.2613-14378A>G | ||
| NM_000369.4:c.243-60T>C | NP_000360.2:n.243-60T>C | |
| NM_001018036.3:c.243-60T>C | NP_001018046.1:n.243-60T>C | |
| NM_001142626.3:c.243-60T>C | NP_001136098.1:n.243-60T>C | |
| NM_000369.5:c.243-60T>C MANE Select | NP_000360.2:n.243-60T>C |