Linked Data
ClinVar Variation Id:
280169
ClinVar RCV Id:
RCV000276997
dbSNP Id:
rs761557390
ExAC:
2:215831669 A / C
gnomAD v2:
2-215831669-A-C
gnomAD v3:
2-214966945-A-C
gnomAD v4:
2-214966945-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214966945A>C , CM000664.2:g.214966945A>C | GRCh38 |
| NC_000002.11:g.215831669A>C , CM000664.1:g.215831669A>C | GRCh37 |
| NC_000002.10:g.215539914A>C | NCBI36 |
| NG_007074.1:g.176483T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.5787T>G MANE Select | ENSP00000272895.7:p.Tyr1929Ter | |
| ENST00000272895.11:c.5787T>G | ENSP00000272895.7:p.Tyr1929Ter | |
| ENST00000389661.4:c.4833T>G | ENSP00000374312.4:p.Tyr1611Ter | |
| NM_015657.3:c.4833T>G | NP_056472.2:p.Tyr1611Ter | |
| NM_173076.2:c.5787T>G | NP_775099.2:p.Tyr1929Ter | |
| NR_103740.1:n.6087T>G | ||
| XM_011510951.1:c.5796T>G | XP_011509253.1:p.Tyr1932Ter | |
| XM_011510952.1:c.5796T>G | XP_011509254.1:p.Tyr1932Ter | |
| XM_011510951.2:c.5796T>G | XP_011509253.1:p.Tyr1932Ter | |
| NM_173076.3:c.5787T>G MANE Select | NP_775099.2:p.Tyr1929Ter | |
| NR_103740.2:n.6285T>G | ||
| NM_015657.4:c.4833T>G | NP_056472.2:p.Tyr1611Ter |