Linked Data
dbSNP Id:
rs11001560
gnomAD v2:
10-54075127-T-C
gnomAD v3:
10-52315367-T-C
gnomAD v4:
10-52315367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52315367T>C , CM000672.2:g.52315367T>C | GRCh38 |
| NC_000010.10:g.54075127T>C , CM000672.1:g.54075127T>C | GRCh37 |
| NC_000010.9:g.53745133T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373970.4:c.406+282T>C MANE Select | ENSP00000363081.3:n.406+282T>C | |
| ENST00000373970.3:c.406+282T>C | ENSP00000363081.3:n.406+282T>C | |
| ENST00000467359.5:n.406+282T>C | ||
| ENST00000476752.1:n.55+61T>C | ||
| ENST00000494277.5:n.29+282T>C | ||
| NM_012242.2:c.406+282T>C | NP_036374.1:n.406+282T>C | |
| NM_012242.3:c.406+282T>C | NP_036374.1:n.406+282T>C | |
| NM_012242.4:c.406+282T>C MANE Select | NP_036374.1:n.406+282T>C |