Linked Data
dbSNP Id:
rs774516270
ExAC:
2:170115620 C / T
gnomAD v2:
2-170115620-C-T
gnomAD v4:
2-169259110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259110C>T , CM000664.2:g.169259110C>T | GRCh38 |
| NC_000002.11:g.170115620C>T , CM000664.1:g.170115620C>T | GRCh37 |
| NC_000002.10:g.169823866C>T | NCBI36 |
| NG_012634.1:g.108503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2428G>A MANE Select | ENSP00000496870.1:p.Val810Ile | |
| ENST00000263816.7:c.2428G>A | ENSP00000263816.3:p.Val810Ile | |
| ENST00000443831.1:c.2017G>A | ENSP00000409813.1:p.Val673Ile | |
| NM_004525.2:c.2428G>A | NP_004516.2:p.Val810Ile | |
| XM_011511183.1:c.2428G>A | XP_011509485.1:p.Val810Ile | |
| XM_011511184.1:c.139G>A | XP_011509486.1:p.Val47Ile | |
| XM_011511185.1:c.2428G>A | XP_011509487.1:p.Val810Ile | |
| NM_004525.3:c.2428G>A MANE Select | NP_004516.2:p.Val810Ile | |
| XM_011511183.3:c.2428G>A | XP_011509485.1:p.Val810Ile | |
| XM_011511184.2:c.139G>A | XP_011509486.1:p.Val47Ile |