Linked Data
dbSNP Id:
rs200822574
ExAC:
7:87144568 G / A
gnomAD v2:
7-87144568-G-A
gnomAD v3:
7-87515252-G-A
gnomAD v4:
7-87515252-G-A
COSMIC:
COSM3883052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87515252G>A , CM000669.2:g.87515252G>A | GRCh38 |
| NC_000007.13:g.87144568G>A , CM000669.1:g.87144568G>A | GRCh37 |
| NC_000007.12:g.86982504G>A | NCBI36 |
| NG_011513.1:g.202997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3261C>T | ENSP00000265724.3:p.Tyr1087= | |
| ENST00000622132.5:c.3261C>T MANE Select | ENSP00000478255.1:p.Tyr1087= | |
| ENST00000265724.7:c.3261C>T | ENSP00000265724.3:p.Tyr1087= | |
| ENST00000475929.5:n.417C>T | ||
| ENST00000488737.6:n.903C>T | ||
| ENST00000496821.5:n.889C>T | ||
| ENST00000543898.5:c.3069C>T | ENSP00000444095.1:p.Tyr1023= | |
| ENST00000622132.4:c.3261C>T | ENSP00000478255.1:p.Tyr1087= | |
| NM_000927.4:c.3261C>T | NP_000918.2:p.Tyr1087= | |
| NM_001348944.1:c.3261C>T | NP_001335873.1:p.Tyr1087= | |
| NM_001348945.1:c.3471C>T | NP_001335874.1:p.Tyr1157= | |
| NM_001348946.1:c.3261C>T | NP_001335875.1:p.Tyr1087= | |
| NM_001348946.2:c.3261C>T MANE Select | NP_001335875.1:p.Tyr1087= | |
| NM_000927.5:c.3261C>T | NP_000918.2:p.Tyr1087= | |
| NM_001348944.2:c.3261C>T | NP_001335873.1:p.Tyr1087= | |
| NM_001348945.2:c.3471C>T | NP_001335874.1:p.Tyr1157= |