Linked Data
dbSNP Id:
rs1561487829
gnomAD v4:
5-13876786-G-T
COSMIC:
COSM3850524
MyVariant Identifiers:
chr5:g.13876895G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13876786G>T , CM000667.2:g.13876786G>T | GRCh38 |
| NC_000005.9:g.13876895G>T , CM000667.1:g.13876895G>T | GRCh37 |
| NC_000005.8:g.13929895G>T | NCBI36 |
| NG_013081.1:g.72695C>A | |
| NG_013081.2:g.72695C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3294C>A MANE Select | ENSP00000265104.4:p.Pro1098= | |
| ENST00000681290.1:c.3249C>A | ENSP00000505288.1:p.Pro1083= | |
| ENST00000265104.4:c.3294C>A | ENSP00000265104.4:p.Pro1098= | |
| NM_001369.2:c.3294C>A | NP_001360.1:p.Pro1098= | |
| XM_005248262.2:c.3249C>A | XP_005248319.1:p.Pro1083= | |
| XM_011513990.1:c.3294C>A | XP_011512292.1:p.Pro1098= | |
| XR_925598.1:n.3501C>A | ||
| XM_005248262.3:c.3402C>A | XP_005248319.2:p.Pro1134= | |
| XM_017009177.1:c.3402C>A | XP_016864666.1:p.Pro1134= | |
| XM_017009178.1:c.2307C>A | XP_016864667.1:p.Pro769= | |
| XM_017009179.2:c.2307C>A | XP_016864668.1:p.Pro769= | |
| XM_017009180.1:c.3402C>A | XP_016864669.1:p.Pro1134= | |
| XM_017009181.1:c.3402C>A | XP_016864670.1:p.Pro1134= | |
| XM_017009182.1:c.3402C>A | XP_016864671.1:p.Pro1134= | |
| XM_017009183.1:c.3402C>A | XP_016864672.1:p.Pro1134= | |
| XM_017009184.1:c.3402C>A | XP_016864673.1:p.Pro1134= | |
| XM_017009187.1:c.3402C>A | XP_016864676.1:p.Pro1134= | |
| XM_024454388.1:c.2307C>A | XP_024310156.1:p.Pro769= | |
| XM_024454389.1:c.1896C>A | XP_024310157.1:p.Pro632= | |
| XR_001742034.1:n.3419C>A | ||
| XR_001742035.1:n.3419C>A | ||
| NM_001369.3:c.3294C>A MANE Select | NP_001360.1:p.Pro1098= |