Linked Data
dbSNP Id:
rs1416560742
gnomAD v2:
10-101577118-G-T
gnomAD v3:
10-99817361-G-T
gnomAD v4:
10-99817361-G-T
COSMIC:
COSM4010956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99817361G>T , CM000672.2:g.99817361G>T | GRCh38 |
| NC_000010.10:g.101577118G>T , CM000672.1:g.101577118G>T | GRCh37 |
| NC_000010.9:g.101567108G>T | NCBI36 |
| NG_011798.1:g.39656G>T | |
| NG_011798.2:g.39764G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2148G>T MANE Select | ENSP00000497274.1:p.Lys716Asn | |
| ENST00000370449.8:c.2148G>T | ENSP00000359478.4:p.Lys716Asn | |
| NM_000392.4:c.2148G>T | NP_000383.1:p.Lys716Asn | |
| XM_006717630.2:c.1452G>T | XP_006717693.1:p.Lys484Asn | |
| XM_006717631.2:c.2148G>T | XP_006717694.1:p.Lys716Asn | |
| XM_011539291.1:c.2148G>T | XP_011537593.1:p.Lys716Asn | |
| XR_945604.1:n.2337G>T | ||
| XR_945605.1:n.2339G>T | ||
| NM_000392.5:c.2148G>T MANE Select | NP_000383.2:p.Lys716Asn | |
| XM_006717630.3:c.1452G>T | XP_006717693.1:p.Lys484Asn | |
| XM_006717631.4:c.2148G>T | XP_006717694.1:p.Lys716Asn | |
| XM_011539291.3:c.2148G>T | XP_011537593.1:p.Lys716Asn | |
| XM_017015675.2:c.2148G>T | XP_016871164.1:p.Lys716Asn | |
| XR_945604.3:n.2391G>T | ||
| XR_945605.3:n.2391G>T |