Linked Data
dbSNP Id:
rs6596189
gnomAD v2:
5-134368169-C-T
gnomAD v3:
5-135032479-C-T
gnomAD v4:
5-135032479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135032479C>T , CM000667.2:g.135032479C>T | GRCh38 |
| NC_000005.9:g.134368169C>T , CM000667.1:g.134368169C>T | GRCh37 |
| NC_000005.8:g.134396068C>T | NCBI36 |
| NG_012114.1:g.6796G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265340.12:c.170-971G>A MANE Select | ENSP00000265340.6:n.170-971G>A | |
| ENST00000265340.11:c.170-971G>A | ENSP00000265340.6:n.170-971G>A | |
| ENST00000502676.1:c.170-971G>A | ENSP00000423624.1:n.170-971G>A | |
| ENST00000503586.1:c.291+366G>A | ||
| ENST00000506438.5:c.170-971G>A | ENSP00000427542.1:n.170-971G>A | |
| ENST00000507253.5:c.170-971G>A | ENSP00000422908.1:n.170-971G>A | |
| NM_002653.4:c.170-971G>A | NP_002644.4:n.170-971G>A | |
| NM_002653.5:c.170-971G>A MANE Select | NP_002644.4:n.170-971G>A |