Linked Data
dbSNP Id:
rs115960372
gnomAD v2:
5-1518494-C-T
gnomAD v3:
5-1518379-C-T
gnomAD v4:
5-1518379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1518379C>T , CM000667.2:g.1518379C>T | GRCh38 |
| NC_000005.9:g.1518494C>T , CM000667.1:g.1518494C>T | GRCh37 |
| NC_000005.8:g.1571494C>T | NCBI36 |
| NG_051622.1:g.10599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283415.4:c.135+5331G>A MANE Select | ENSP00000283415.3:n.135+5331G>A | |
| ENST00000283415.3:c.135+5331G>A | ENSP00000283415.3:n.135+5331G>A | |
| ENST00000475622.5:c.135+5331G>A | ENSP00000423472.1:n.135+5331G>A | |
| ENST00000514484.6:n.165+2968G>A | ||
| NM_024830.3:c.135+5331G>A | NP_079106.3:n.135+5331G>A | |
| XM_005248373.2:c.-10+2968G>A | XP_005248430.1:n.-10+2968G>A | |
| XM_011514133.1:c.201+7136G>A | XP_011512435.1:n.201+7136G>A | |
| NM_024830.4:c.135+5331G>A | NP_079106.3:n.135+5331G>A | |
| XM_005248373.3:c.-10+2968G>A | XP_005248430.1:n.-10+2968G>A | |
| NM_024830.5:c.135+5331G>A MANE Select | NP_079106.3:n.135+5331G>A |