Linked Data
dbSNP Id:
rs1419853881
gnomAD v2:
14-91739143-C-G
gnomAD v3:
14-91272799-C-G
gnomAD v4:
14-91272799-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272799C>G , CM000676.2:g.91272799C>G | GRCh38 |
| NC_000014.8:g.91739143C>G , CM000676.1:g.91739143C>G | GRCh37 |
| NC_000014.7:g.90808896C>G | NCBI36 |
| NG_033118.1:g.150046G>C | |
| NG_033118.2:g.150046G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5913G>C MANE Select | ENSP00000374507.6:p.Gln1971His | |
| ENST00000331194.8:c.1347G>C | ENSP00000330332.8:p.Gln449His | |
| ENST00000389857.10:c.5913G>C | ENSP00000374507.6:p.Gln1971His | |
| ENST00000556726.5:c.2141G>C | ||
| NM_001080414.3:c.5913G>C | NP_001073883.2:p.Gln1971His | |
| XM_011536796.1:c.5805G>C | XP_011535098.1:p.Gln1935His | |
| XM_011536796.2:c.5805G>C | XP_011535098.1:p.Gln1935His | |
| XM_017021336.1:c.2994G>C | XP_016876825.1:p.Gln998His | |
| NM_001080414.4:c.5913G>C MANE Select | NP_001073883.2:p.Gln1971His |