Linked Data
ClinVar Variation Id:
498204
dbSNP Id:
rs375251871
ExAC:
18:2728519 T / C
gnomAD v2:
18-2728519-T-C
gnomAD v3:
18-2728521-T-C
gnomAD v4:
18-2728521-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2728521T>C , CM000680.2:g.2728521T>C | GRCh38 |
| NC_000018.9:g.2728519T>C , CM000680.1:g.2728519T>C | GRCh37 |
| NC_000018.8:g.2718519T>C | NCBI36 |
| NG_031972.1:g.77634T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583441.2:n.524T>C | ||
| ENST00000686763.1:c.-358T>C | ENSP00000510263.1:n.-358T>C | |
| ENST00000688342.1:c.2838T>C | ENSP00000508422.1:p.Ala946= | |
| ENST00000690757.1:n.295T>C | ||
| ENST00000693213.1:n.2116T>C | ||
| ENST00000320876.11:c.2838T>C MANE Select | ENSP00000326603.7:p.Ala946= | |
| ENST00000320876.10:c.2838T>C | ENSP00000326603.6:p.Ala946= | |
| ENST00000577880.5:c.1251T>C | ENSP00000463049.1:p.Ala417= | |
| ENST00000581631.1:n.108T>C | ||
| ENST00000584897.5:c.658T>C | ||
| ENST00000609587.1:n.151T>C | ||
| NM_015295.2:c.2838T>C | NP_056110.2:p.Ala946= | |
| XM_011525642.1:c.2838T>C | XP_011523944.1:p.Ala946= | |
| XM_011525643.1:c.2838T>C | XP_011523945.1:p.Ala946= | |
| XM_011525644.1:c.2454T>C | XP_011523946.1:p.Ala818= | |
| XM_011525645.1:c.2274T>C | XP_011523947.1:p.Ala758= | |
| XM_011525646.1:c.2838T>C | XP_011523948.1:p.Ala946= | |
| XM_011525647.1:c.2838T>C | XP_011523949.1:p.Ala946= | |
| XR_430039.1:n.3027T>C | ||
| XR_935054.1:n.3027T>C | ||
| XR_935055.1:n.3027T>C | ||
| XM_011525643.2:c.2838T>C | XP_011523945.1:p.Ala946= | |
| XM_017025684.1:c.2274T>C | XP_016881173.1:p.Ala758= | |
| XR_001753172.1:n.3027T>C | ||
| XR_001753173.1:n.3027T>C | ||
| XR_001753174.1:n.3027T>C | ||
| XR_001753175.1:n.3027T>C | ||
| XR_001753176.1:n.3027T>C | ||
| XR_001753177.1:n.3027T>C | ||
| XR_001753178.1:n.3027T>C | ||
| XR_001753179.1:n.3027T>C | ||
| XR_935055.2:n.3027T>C | ||
| NM_015295.3:c.2838T>C MANE Select | NP_056110.2:p.Ala946= |