Linked Data
dbSNP Id:
rs775868466
ExAC:
18:29121309 T / G
gnomAD v2:
18-29121309-T-G
gnomAD v3:
18-31541346-T-G
gnomAD v4:
18-31541346-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541346T>G , CM000680.2:g.31541346T>G | GRCh38 |
| NC_000018.9:g.29121309T>G , CM000680.1:g.29121309T>G | GRCh37 |
| NC_000018.8:g.27375307T>G | NCBI36 |
| NG_007072.3:g.48105T>G , LRG_397:g.48105T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2001+32T>G MANE Select | ENSP00000261590.8:n.2001+32T>G | |
| ENST00000261590.12:c.2001+32T>G | ENSP00000261590.8:n.2001+32T>G | |
| NM_001943.3:c.2001+32T>G , LRG_397t1:c.2001+32T>G | NP_001934.2:n.2001+32T>G | |
| NM_001943.4:c.2001+32T>G | NP_001934.2:n.2001+32T>G | |
| XM_024451095.1:c.1467+32T>G | XP_024306863.1:n.1467+32T>G | |
| NM_001943.5:c.2001+32T>G MANE Select | NP_001934.2:n.2001+32T>G |