Linked Data
ClinVar Variation Id:
626105
ClinVar RCV Id:
RCV000768221
dbSNP Id:
rs774250442
ExAC:
5:127673792 G / T
gnomAD v2:
5-127673792-G-T
gnomAD v4:
5-128338100-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338100G>T , CM000667.2:g.128338100G>T | GRCh38 |
| NC_000005.9:g.127673792G>T , CM000667.1:g.127673792G>T | GRCh37 |
| NC_000005.8:g.127701691G>T | NCBI36 |
| NG_008750.1:g.204944C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.279C>A | ||
| ENST00000703785.1:n.360C>A | ||
| ENST00000262464.9:c.3495C>A MANE Select | ENSP00000262464.4:p.Asn1165Lys | |
| ENST00000262464.8:c.3495C>A | ENSP00000262464.4:p.Asn1165Lys | |
| ENST00000507835.5:c.45C>A | ENSP00000426839.1:p.Asn15Lys | |
| ENST00000508053.5:c.3495C>A | ENSP00000424571.1:p.Asn1165Lys | |
| ENST00000508989.5:c.3396C>A | ENSP00000425596.1:p.Asn1132Lys | |
| ENST00000619499.4:c.3492C>A | ENSP00000482132.1:p.Asn1164Lys | |
| NM_001999.3:c.3495C>A | NP_001990.2:p.Asn1165Lys | |
| XM_017009228.2:c.3342C>A | XP_016864717.1:p.Asn1114Lys | |
| NM_001999.4:c.3495C>A MANE Select | NP_001990.2:p.Asn1165Lys |