Linked Data
dbSNP Id:
rs753065769
ExAC:
7:5680773 G / C
gnomAD v2:
7-5680773-G-C
gnomAD v4:
7-5641142-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641142G>C , CM000669.2:g.5641142G>C | GRCh38 |
| NC_000007.13:g.5680773G>C , CM000669.1:g.5680773G>C | GRCh37 |
| NC_000007.12:g.5647299G>C | NCBI36 |
| NG_029374.1:g.145589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2382+12C>G MANE Select | ENSP00000374552.3:n.2382+12C>G | |
| ENST00000389900.8:c.*1499+12C>G | ENSP00000374550.4:n.*1499+12C>G | |
| ENST00000389902.7:c.2382+12C>G | ENSP00000374552.3:n.2382+12C>G | |
| ENST00000425013.6:c.2211+12C>G | ENSP00000404602.2:n.2211+12C>G | |
| ENST00000469375.1:n.599+12C>G | ||
| NM_207111.3:c.2382+12C>G | NP_996994.1:n.2382+12C>G | |
| NM_207116.2:c.2211+12C>G | NP_996999.1:n.2211+12C>G | |
| XM_005249785.2:c.2382+12C>G | XP_005249842.1:n.2382+12C>G | |
| XM_006715748.1:c.1077+12C>G | XP_006715811.1:n.1077+12C>G | |
| XM_011515434.1:c.2382+12C>G | XP_011513736.1:n.2382+12C>G | |
| XM_011515436.1:c.1077+12C>G | XP_011513738.1:n.1077+12C>G | |
| XM_011515436.2:c.1077+12C>G | XP_011513738.1:n.1077+12C>G | |
| XM_017012363.2:c.2211+12C>G | XP_016867852.1:n.2211+12C>G | |
| XM_024446805.1:c.2382+12C>G | XP_024302573.1:n.2382+12C>G | |
| XM_024446806.1:c.1077+12C>G | XP_024302574.1:n.1077+12C>G | |
| XM_024446807.1:c.1077+12C>G | XP_024302575.1:n.1077+12C>G | |
| NM_001377156.1:c.2211+12C>G | NP_001364085.1:n.2211+12C>G | |
| NM_207111.4:c.2382+12C>G MANE Select | NP_996994.1:n.2382+12C>G | |
| NM_207116.3:c.2211+12C>G | NP_996999.1:n.2211+12C>G |