Linked Data
ClinVar Variation Id:
287853
dbSNP Id:
rs199510509
ExAC:
4:79458320 C / T
gnomAD v2:
4-79458320-C-T
gnomAD v3:
4-78537166-C-T
gnomAD v4:
4-78537166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78537166C>T , CM000666.2:g.78537166C>T | GRCh38 |
| NC_000004.11:g.79458320C>T , CM000666.1:g.79458320C>T | GRCh37 |
| NC_000004.10:g.79677344C>T | NCBI36 |
| NG_015812.1:g.484597C>T | |
| NG_015812.2:g.484597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11264C>T MANE Select | ENSP00000422834.2:p.Pro3755Leu | |
| ENST00000512123.3:c.11264C>T | ENSP00000422834.2:p.Pro3755Leu | |
| NM_025074.6:c.11264C>T | NP_079350.5:p.Pro3755Leu | |
| XM_006714314.1:c.11258C>T | XP_006714377.1:p.Pro3753Leu | |
| XM_006714316.1:c.11036C>T | XP_006714379.1:p.Pro3679Leu | |
| XM_011532270.1:c.8963C>T | XP_011530572.1:p.Pro2988Leu | |
| XM_011532271.1:c.6152C>T | XP_011530573.1:p.Pro2051Leu | |
| XM_006714316.3:c.11036C>T | XP_006714379.1:p.Pro3679Leu | |
| NM_025074.7:c.11264C>T MANE Select | NP_079350.5:p.Pro3755Leu |