Linked Data
dbSNP Id:
rs377619612
gnomAD v2:
2-207632173-G-C
gnomAD v3:
2-206767449-G-C
gnomAD v4:
2-206767449-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206767449G>C , CM000664.2:g.206767449G>C | GRCh38 |
| NC_000002.11:g.207632173G>C , CM000664.1:g.207632173G>C | GRCh37 |
| NC_000002.10:g.207340418G>C | NCBI36 |
| NG_008984.1:g.7062G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.756G>C MANE Select | ENSP00000385990.3:p.Gln252His | |
| ENST00000236980.10:c.756G>C | ENSP00000236980.6:p.Gln252His | |
| ENST00000402774.7:c.756G>C | ENSP00000385990.3:p.Gln252His | |
| ENST00000403094.3:c.756G>C | ENSP00000384929.3:p.Gln252His | |
| ENST00000487777.5:n.814G>C | ||
| NM_001136193.1:c.756G>C | NP_001129665.1:p.Gln252His | |
| NM_001136194.1:c.756G>C | NP_001129666.1:p.Gln252His | |
| NM_014929.3:c.756G>C | NP_055744.2:p.Gln252His | |
| NM_001136193.2:c.756G>C MANE Select | NP_001129665.1:p.Gln252His | |
| NM_001136194.2:c.756G>C | NP_001129666.1:p.Gln252His | |
| NM_014929.4:c.756G>C | NP_055744.2:p.Gln252His |