Linked Data
dbSNP Id:
rs1205262902
gnomAD v2:
22-36677940-G-C
gnomAD v3:
22-36281894-G-C
gnomAD v4:
22-36281894-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36281894G>C , CM000684.2:g.36281894G>C | GRCh38 |
| NC_000022.10:g.36677940G>C , CM000684.1:g.36677940G>C | GRCh37 |
| NC_000022.9:g.35007886G>C | NCBI36 |
| NG_011884.2:g.111125C>G , LRG_567:g.111125C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.3090C>G | ||
| ENST00000685801.1:c.*774C>G | ENSP00000510688.1:n.*774C>G | |
| ENST00000690244.1:n.1993C>G | ||
| ENST00000691109.1:n.6952C>G | ||
| ENST00000216181.11:c.*774C>G MANE Select | ENSP00000216181.6:n.*774C>G | |
| ENST00000216181.9:c.*774C>G | ENSP00000216181.5:n.*774C>G | |
| NM_002473.5:c.*774C>G , LRG_567t1:c.*774C>G | NP_002464.1:n.*774C>G | |
| XM_011530197.1:c.*774C>G | XP_011528499.1:n.*774C>G | |
| XM_011530197.2:c.*774C>G | XP_011528499.1:n.*774C>G | |
| XM_017028803.1:c.*774C>G | XP_016884292.1:n.*774C>G | |
| XM_017028804.1:c.*774C>G | XP_016884293.1:n.*774C>G | |
| XM_017028805.1:c.*774C>G | XP_016884294.1:n.*774C>G | |
| XM_017028806.1:c.*774C>G | XP_016884295.1:n.*774C>G | |
| NM_002473.6:c.*774C>G MANE Select | NP_002464.1:n.*774C>G |