Linked Data
dbSNP Id:
rs17716942
gnomAD v2:
2-163260691-T-C
gnomAD v3:
2-162404181-T-C
gnomAD v4:
2-162404181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162404181T>C , CM000664.2:g.162404181T>C | GRCh38 |
| NC_000002.11:g.163260691T>C , CM000664.1:g.163260691T>C | GRCh37 |
| NC_000002.10:g.162968937T>C | NCBI36 |
| NG_041938.1:g.439567A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332142.10:c.2155-3740A>G MANE Select | ENSP00000331727.5:n.2155-3740A>G | |
| ENST00000332142.9:c.2155-3740A>G | ENSP00000331727.5:n.2155-3740A>G | |
| ENST00000618399.4:c.1855-3740A>G | ENSP00000482818.1:n.1855-3740A>G | |
| NM_033272.3:c.2155-3740A>G | NP_150375.2:n.2155-3740A>G | |
| XM_011512109.1:c.2179-3740A>G | XP_011510411.1:n.2179-3740A>G | |
| XM_011512109.3:c.2179-3740A>G | XP_011510411.1:n.2179-3740A>G | |
| XM_017005218.2:c.2179-3749A>G | XP_016860707.1:n.2179-3749A>G | |
| XM_017005219.2:c.2155-3749A>G | XP_016860708.1:n.2155-3749A>G | |
| XM_017005220.2:c.2134-3740A>G | XP_016860709.1:n.2134-3740A>G | |
| NM_033272.4:c.2155-3740A>G MANE Select | NP_150375.2:n.2155-3740A>G |