Linked Data
ClinVar Variation Id:
519560
ClinVar RCV Id:
RCV000633632
dbSNP Id:
rs185809581
ExAC:
5:127674692 C / T
gnomAD v2:
5-127674692-C-T
gnomAD v3:
5-128339000-C-T
gnomAD v4:
5-128339000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128339000C>T , CM000667.2:g.128339000C>T | GRCh38 |
| NC_000005.9:g.127674692C>T , CM000667.1:g.127674692C>T | GRCh37 |
| NC_000005.8:g.127702591C>T | NCBI36 |
| NG_008750.1:g.204044G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.189G>A | ||
| ENST00000703785.1:n.270G>A | ||
| ENST00000262464.9:c.3405G>A MANE Select | ENSP00000262464.4:p.Pro1135= | |
| ENST00000262464.8:c.3405G>A | ENSP00000262464.4:p.Pro1135= | |
| ENST00000507835.5:c.-46G>A | ENSP00000426839.1:n.-46G>A | |
| ENST00000508053.5:c.3405G>A | ENSP00000424571.1:p.Pro1135= | |
| ENST00000508989.5:c.3306G>A | ENSP00000425596.1:p.Pro1102= | |
| ENST00000619499.4:c.3402G>A | ENSP00000482132.1:p.Pro1134= | |
| NM_001999.3:c.3405G>A | NP_001990.2:p.Pro1135= | |
| XM_017009228.2:c.3252G>A | XP_016864717.1:p.Pro1084= | |
| NM_001999.4:c.3405G>A MANE Select | NP_001990.2:p.Pro1135= |