Linked Data
ClinVar Variation Id:
1390023
ClinVar RCV Id:
RCV001890796
dbSNP Id:
rs1184382907
gnomAD v2:
11-2187949-C-T
gnomAD v4:
11-2166719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166719C>T , CM000673.2:g.2166719C>T | GRCh38 |
| NC_000011.9:g.2187949C>T , CM000673.1:g.2187949C>T | GRCh37 |
| NC_000011.8:g.2144525C>T | NCBI36 |
| NG_008128.1:g.10087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.891G>A MANE Select | ENSP00000325951.4:p.Arg297= | |
| ENST00000324155.8:c.*580G>A | ENSP00000325831.3:n.*580G>A | |
| ENST00000333684.9:c.696-170G>A | ENSP00000328814.6:n.696-170G>A | |
| ENST00000352909.7:c.891G>A | ENSP00000325951.3:p.Arg297= | |
| ENST00000381168.7:c.*611G>A | ENSP00000370560.3:n.*611G>A | |
| ENST00000381175.5:c.972G>A | ENSP00000370567.1:p.Arg324= | |
| ENST00000381178.5:c.984G>A | ENSP00000370571.1:p.Arg328= | |
| ENST00000412076.1:c.136-170G>A | ||
| ENST00000416223.5:c.185G>A | ||
| ENST00000461172.1:n.56G>A | ||
| ENST00000479437.5:n.440G>A | ||
| NM_000360.3:c.891G>A | NP_000351.2:p.Arg297= | |
| NM_199292.2:c.984G>A | NP_954986.2:p.Arg328= | |
| NM_199293.2:c.972G>A | NP_954987.2:p.Arg324= | |
| XM_011520335.1:c.903G>A | XP_011518637.1:p.Arg301= | |
| XM_011520335.2:c.903G>A | XP_011518637.1:p.Arg301= | |
| NM_000360.4:c.891G>A MANE Select | NP_000351.2:p.Arg297= | |
| NM_199292.3:c.984G>A | NP_954986.2:p.Arg328= | |
| NM_199293.3:c.972G>A | NP_954987.2:p.Arg324= |