Linked Data
dbSNP Id:
rs1166964285
gnomAD v2:
2-170204789-C-A
gnomAD v3:
2-169348279-C-A
gnomAD v4:
2-169348279-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169348279C>A , CM000664.2:g.169348279C>A | GRCh38 |
| NC_000002.11:g.170204789C>A , CM000664.1:g.170204789C>A | GRCh37 |
| NC_000002.10:g.169913035C>A | NCBI36 |
| NG_012634.1:g.19334G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.79+14042G>T MANE Select | ENSP00000496870.1:n.79+14042G>T | |
| ENST00000263816.7:c.79+14042G>T | ENSP00000263816.3:n.79+14042G>T | |
| ENST00000443831.1:c.79+14042G>T | ENSP00000409813.1:n.79+14042G>T | |
| NM_004525.2:c.79+14042G>T | NP_004516.2:n.79+14042G>T | |
| XM_011511183.1:c.79+14042G>T | XP_011509485.1:n.79+14042G>T | |
| XM_011511185.1:c.79+14042G>T | XP_011509487.1:n.79+14042G>T | |
| NM_004525.3:c.79+14042G>T MANE Select | NP_004516.2:n.79+14042G>T | |
| XM_011511183.3:c.79+14042G>T | XP_011509485.1:n.79+14042G>T |