Linked Data
ClinVar Variation Id:
1579349
ClinVar RCV Id:
RCV002102460
dbSNP Id:
rs753100774
gnomAD v4:
5-71635018-T-C
MyVariant Identifiers:
chr5:g.70930845T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635018T>C , CM000667.2:g.71635018T>C | GRCh38 |
| NC_000005.9:g.70930845T>C , CM000667.1:g.70930845T>C | GRCh37 |
| NC_000005.8:g.70966601T>C | NCBI36 |
| NG_008882.1:g.52731T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.835T>C | ||
| ENST00000505787.8:n.2719T>C | ||
| ENST00000509358.7:c.879T>C | ENSP00000420994.3:p.Asn293= | |
| ENST00000509539.3:c.141T>C | ENSP00000425474.3:p.Asn47= | |
| ENST00000510895.7:n.1002T>C | ||
| ENST00000629193.3:c.765T>C | ENSP00000486535.2:p.Asn255= | |
| ENST00000681968.1:c.372T>C | ENSP00000508143.1:p.Asn124= | |
| ENST00000682045.1:c.735T>C | ENSP00000507329.1:p.Asn245= | |
| ENST00000682214.1:c.486T>C | ENSP00000507336.1:p.Asn162= | |
| ENST00000682499.1:n.1700T>C | ||
| ENST00000682541.1:c.879T>C | ENSP00000507673.1:p.Asn293= | |
| ENST00000682687.1:c.879T>C | ENSP00000507945.1:p.Asn293= | |
| ENST00000682727.1:c.879T>C | ENSP00000507393.1:p.Asn293= | |
| ENST00000682876.1:c.1008T>C | ENSP00000508389.1:p.Asn336= | |
| ENST00000683098.1:c.803+2833T>C | ENSP00000507670.1:n.803+2833T>C | |
| ENST00000683258.1:c.*600T>C | ENSP00000507448.1:n.*600T>C | |
| ENST00000683339.1:c.663T>C | ENSP00000507758.1:p.Asn221= | |
| ENST00000683403.1:c.813+66T>C | ENSP00000507896.1:n.813+66T>C | |
| ENST00000683429.1:c.486T>C | ENSP00000507697.1:p.Asn162= | |
| ENST00000683665.1:c.879T>C | ENSP00000507068.1:p.Asn293= | |
| ENST00000683789.1:c.765T>C | ENSP00000507012.1:p.Asn255= | |
| ENST00000683847.1:n.723T>C | ||
| ENST00000683882.1:c.879T>C | ENSP00000506735.1:p.Asn293= | |
| ENST00000684024.1:c.*550T>C | ENSP00000507175.1:n.*550T>C | |
| ENST00000684254.1:c.*605T>C | ENSP00000508001.1:n.*605T>C | |
| ENST00000684310.1:c.141T>C | ENSP00000507550.1:p.Asn47= | |
| ENST00000684530.1:c.141T>C | ENSP00000507439.1:p.Asn47= | |
| ENST00000684652.1:n.1881T>C | ||
| ENST00000340941.11:c.879T>C MANE Select | ENSP00000343657.6:p.Asn293= | |
| ENST00000340941.10:c.879T>C | ENSP00000343657.6:p.Asn293= | |
| ENST00000505435.3:n.230T>C | ||
| ENST00000505787.7:n.693T>C | ||
| ENST00000509358.6:c.879T>C | ENSP00000420994.2:p.Asn293= | |
| ENST00000509539.2:c.204T>C | ENSP00000425474.2:p.Asn68= | |
| ENST00000510895.6:n.493T>C | ||
| ENST00000512218.6:c.765T>C | ENSP00000423202.2:p.Asn255= | |
| ENST00000629193.2:c.765T>C | ENSP00000486535.1:p.Asn255= | |
| NM_022132.4:c.879T>C | NP_071415.1:p.Asn293= | |
| XM_005248567.1:c.765T>C | XP_005248624.1:p.Asn255= | |
| XM_011543528.1:c.879T>C | XP_011541830.1:p.Asn293= | |
| XM_011543529.1:c.879T>C | XP_011541831.1:p.Asn293= | |
| NM_001363147.1:c.765T>C | NP_001350076.1:p.Asn255= | |
| XM_011543529.2:c.879T>C | XP_011541831.1:p.Asn293= | |
| XM_017009688.1:c.879T>C | XP_016865177.1:p.Asn293= | |
| XR_001742172.1:n.919T>C | ||
| NM_022132.5:c.879T>C MANE Select | NP_071415.1:p.Asn293= |