Linked Data
ClinVar Variation Id:
300447
dbSNP Id:
rs762382800
gnomAD v2:
10-73548741-C-T
gnomAD v3:
10-71788984-C-T
gnomAD v4:
10-71788984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71788984C>T , CM000672.2:g.71788984C>T | GRCh38 |
| NC_000010.10:g.73548741C>T , CM000672.1:g.73548741C>T | GRCh37 |
| NC_000010.9:g.73218747C>T | NCBI36 |
| NG_008835.1:g.397038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5865C>T MANE Select | ENSP00000224721.9:p.Asn1955= | |
| ENST00000224721.10:c.5880C>T | ENSP00000224721.8:p.Asn1960= | |
| ENST00000622827.4:c.5865C>T | ENSP00000483211.1:p.Asn1955= | |
| NM_022124.5:c.5865C>T | NP_071407.4:p.Asn1955= | |
| XM_006717940.2:c.6060C>T | XP_006718003.1:p.Asn2020= | |
| XM_006717942.2:c.5994C>T | XP_006718005.1:p.Asn1998= | |
| XM_011540039.1:c.6057C>T | XP_011538341.1:p.Asn2019= | |
| XM_011540040.1:c.6054C>T | XP_011538342.1:p.Asn2018= | |
| XM_011540041.1:c.6000C>T | XP_011538343.1:p.Asn2000= | |
| XM_011540042.1:c.6060C>T | XP_011538344.1:p.Asn2020= | |
| XM_011540043.1:c.6060C>T | XP_011538345.1:p.Asn2020= | |
| XM_011540044.1:c.5925C>T | XP_011538346.1:p.Asn1975= | |
| XM_011540045.1:c.6060C>T | XP_011538347.1:p.Asn2020= | |
| XM_011540046.1:c.5520C>T | XP_011538348.1:p.Asn1840= | |
| XM_011540047.1:c.4878C>T | XP_011538349.1:p.Asn1626= | |
| XM_011540048.1:c.6060C>T | XP_011538350.1:p.Asn2020= | |
| XM_011540049.1:c.6060C>T | XP_011538351.1:p.Asn2020= | |
| XM_011540050.1:c.6060C>T | XP_011538352.1:p.Asn2020= | |
| XM_011540051.1:c.6060C>T | XP_011538353.1:p.Asn2020= | |
| XM_011540052.1:c.2388C>T | XP_011538354.1:p.Asn796= | |
| XM_011540053.1:c.6060C>T | XP_011538355.1:p.Asn2020= | |
| XR_945796.1:n.6303C>T | ||
| NM_022124.6:c.5865C>T MANE Select | NP_071407.4:p.Asn1955= |