Linked Data
ClinVar Variation Id:
3059536
ClinVar RCV Id:
RCV003974507
dbSNP Id:
rs2074225
ExAC:
11:60776306 C / T
gnomAD v2:
11-60776306-C-T
gnomAD v3:
11-61008834-C-T
gnomAD v4:
11-61008834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61008834C>T , CM000673.2:g.61008834C>T | GRCh38 |
| NC_000011.9:g.60776306C>T , CM000673.1:g.60776306C>T | GRCh37 |
| NC_000011.8:g.60532882C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313421.11:c.770C>T MANE Select | ENSP00000323280.7:p.Ala257Val | |
| ENST00000344931.9:c.770C>T | ENSP00000340334.5:p.Ala257Val | |
| ENST00000352009.9:c.770C>T | ENSP00000340628.5:p.Ala257Val | |
| ENST00000433107.6:c.770C>T | ENSP00000410638.2:p.Ala257Val | |
| ENST00000452451.6:c.770C>T | ENSP00000390676.2:p.Ala257Val | |
| ENST00000538611.1:c.301C>T | ||
| ENST00000541964.1:n.484C>T | ||
| ENST00000542157.5:c.770C>T | ENSP00000440055.1:p.Ala257Val | |
| ENST00000545105.5:n.247-1013C>T | ||
| NM_001254750.1:c.770C>T | NP_001241679.1:p.Ala257Val | |
| NM_001254751.1:c.770C>T | NP_001241680.1:p.Ala257Val | |
| NM_006725.4:c.770C>T | NP_006716.3:p.Ala257Val | |
| NR_045638.1:n.995C>T | ||
| XM_006718738.1:c.770C>T | XP_006718801.1:p.Ala257Val | |
| XM_006718739.1:c.770C>T | XP_006718802.1:p.Ala257Val | |
| XM_006718740.1:c.770C>T | XP_006718803.1:p.Ala257Val | |
| XM_006718741.1:c.770C>T | XP_006718804.1:p.Ala257Val | |
| XM_011545360.1:c.770C>T | XP_011543662.1:p.Ala257Val | |
| XM_011545361.1:c.770C>T | XP_011543663.1:p.Ala257Val | |
| XM_011545362.1:c.770C>T | XP_011543664.1:p.Ala257Val | |
| XM_006718738.2:c.770C>T | XP_006718801.1:p.Ala257Val | |
| XM_006718739.2:c.770C>T | XP_006718802.1:p.Ala257Val | |
| XM_006718740.2:c.770C>T | XP_006718803.1:p.Ala257Val | |
| XM_006718741.2:c.770C>T | XP_006718804.1:p.Ala257Val | |
| XM_011545360.2:c.770C>T | XP_011543662.1:p.Ala257Val | |
| XM_011545362.2:c.770C>T | XP_011543664.1:p.Ala257Val | |
| NM_006725.5:c.770C>T MANE Select | NP_006716.3:p.Ala257Val | |
| NM_001254750.2:c.770C>T | NP_001241679.1:p.Ala257Val | |
| NM_001254751.2:c.770C>T | NP_001241680.1:p.Ala257Val | |
| NR_045638.2:n.956C>T |