Linked Data
ClinVar Variation Id:
129841
dbSNP Id:
rs61744358
ExAC:
5:6600064 G / T
gnomAD v2:
5-6600064-G-T
gnomAD v3:
5-6599951-G-T
gnomAD v4:
5-6599951-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6599951G>T , CM000667.2:g.6599951G>T | GRCh38 |
| NC_000005.9:g.6600064G>T , CM000667.1:g.6600064G>T | GRCh37 |
| NC_000005.8:g.6653064G>T | NCBI36 |
| NG_028215.1:g.38410C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.2279C>A MANE Select | ENSP00000264670.6:p.Pro760Gln | |
| ENST00000264670.10:c.2279C>A | ENSP00000264670.6:p.Pro760Gln | |
| ENST00000504374.5:c.*1585C>A | ENSP00000421783.1:n.*1585C>A | |
| ENST00000505892.5:n.2848C>A | ||
| ENST00000506139.5:c.2174C>A | ENSP00000420957.1:p.Pro725Gln | |
| ENST00000513888.5:n.739C>A | ||
| NM_001193455.1:c.2174C>A | NP_001180384.1:p.Pro725Gln | |
| NM_017755.5:c.2279C>A | NP_060225.4:p.Pro760Gln | |
| NR_037947.1:n.2575C>A | ||
| NM_017755.6:c.2279C>A MANE Select | NP_060225.4:p.Pro760Gln | |
| NM_001193455.2:c.2174C>A | NP_001180384.1:p.Pro725Gln | |
| NR_037947.2:n.2259C>A |