Linked Data
dbSNP Id:
rs749330482
ExAC:
2:235961248 A / G
gnomAD v2:
2-235961248-A-G
gnomAD v4:
2-235052604-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.235052604A>G , CM000664.2:g.235052604A>G | GRCh38 |
| NC_000002.11:g.235961248A>G , CM000664.1:g.235961248A>G | GRCh37 |
| NC_000002.10:g.235625987A>G | NCBI36 |
| NG_033930.1:g.105621A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392011.7:c.2521A>G MANE Select | ENSP00000375867.2:p.Ile841Val | |
| ENST00000344528.8:c.2521A>G | ENSP00000340237.4:p.Ile841Val | |
| ENST00000392011.6:c.2521A>G | ENSP00000375867.2:p.Ile841Val | |
| ENST00000409212.5:c.2521A>G | ENSP00000386862.1:p.Ile841Val | |
| NM_014521.2:c.2521A>G | NP_055336.1:p.Ile841Val | |
| XM_011510891.1:c.2521A>G | XP_011509193.1:p.Ile841Val | |
| XM_011510892.1:c.2521A>G | XP_011509194.1:p.Ile841Val | |
| XM_011510893.1:c.2521A>G | XP_011509195.1:p.Ile841Val | |
| XM_011510894.1:c.2521A>G | XP_011509196.1:p.Ile841Val | |
| XM_011510891.2:c.2521A>G | XP_011509193.1:p.Ile841Val | |
| XM_011510894.2:c.2521A>G | XP_011509196.1:p.Ile841Val | |
| NM_014521.3:c.2521A>G MANE Select | NP_055336.1:p.Ile841Val | |
| NM_001371302.1:c.2521A>G | NP_001358231.1:p.Ile841Val | |
| NM_001371303.1:c.2521A>G | NP_001358232.1:p.Ile841Val | |
| NM_001371304.1:c.2521A>G | NP_001358233.1:p.Ile841Val | |
| NM_001371305.1:c.2521A>G | NP_001358234.1:p.Ile841Val | |
| NM_001371306.1:c.2521A>G | NP_001358235.1:p.Ile841Val |