Linked Data
dbSNP Id:
rs547387191
ExAC:
2:20188988 C / G
gnomAD v2:
2-20188988-C-G
gnomAD v3:
2-19989227-C-G
gnomAD v4:
2-19989227-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19989227C>G , CM000664.2:g.19989227C>G | GRCh38 |
| NC_000002.11:g.20188988C>G , CM000664.1:g.20188988C>G | GRCh37 |
| NC_000002.10:g.20052469C>G | NCBI36 |
| NG_021212.1:g.5897G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.80G>C MANE Select | ENSP00000281405.5:p.Gly27Ala | |
| ENST00000345530.8:c.80G>C MANE Plus Clinical | ENSP00000314444.5:p.Gly27Ala | |
| ENST00000281405.8:c.80G>C | ENSP00000281405.4:p.Gly27Ala | |
| ENST00000345530.7:c.80G>C | ENSP00000314444.5:p.Gly27Ala | |
| ENST00000414212.5:c.80G>C | ENSP00000390802.1:p.Gly27Ala | |
| NM_001006657.1:c.80G>C | NP_001006658.1:p.Gly27Ala | |
| NM_020779.3:c.80G>C | NP_065830.2:p.Gly27Ala | |
| XR_426989.2:n.113G>C | ||
| XR_939699.1:n.113G>C | ||
| XR_001738862.1:n.113G>C | ||
| XR_426989.3:n.113G>C | ||
| XR_939699.3:n.113G>C | ||
| NM_001006657.2:c.80G>C MANE Plus Clinical | NP_001006658.1:p.Gly27Ala | |
| NM_020779.4:c.80G>C MANE Select | NP_065830.2:p.Gly27Ala |