Linked Data
dbSNP Id:
rs1359502357
gnomAD v2:
5-1518505-G-C
gnomAD v3:
5-1518390-G-C
gnomAD v4:
5-1518390-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1518390G>C , CM000667.2:g.1518390G>C | GRCh38 |
| NC_000005.9:g.1518505G>C , CM000667.1:g.1518505G>C | GRCh37 |
| NC_000005.8:g.1571505G>C | NCBI36 |
| NG_051622.1:g.10588C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283415.4:c.135+5320C>G MANE Select | ENSP00000283415.3:n.135+5320C>G | |
| ENST00000283415.3:c.135+5320C>G | ENSP00000283415.3:n.135+5320C>G | |
| ENST00000475622.5:c.135+5320C>G | ENSP00000423472.1:n.135+5320C>G | |
| ENST00000514484.6:n.165+2957C>G | ||
| NM_024830.3:c.135+5320C>G | NP_079106.3:n.135+5320C>G | |
| XM_005248373.2:c.-10+2957C>G | XP_005248430.1:n.-10+2957C>G | |
| XM_011514133.1:c.201+7125C>G | XP_011512435.1:n.201+7125C>G | |
| NM_024830.4:c.135+5320C>G | NP_079106.3:n.135+5320C>G | |
| XM_005248373.3:c.-10+2957C>G | XP_005248430.1:n.-10+2957C>G | |
| NM_024830.5:c.135+5320C>G MANE Select | NP_079106.3:n.135+5320C>G |