Linked Data
ClinVar Variation Id:
195620
dbSNP Id:
rs777106945
gnomAD v2:
9-140707883-C-T
gnomAD v3:
9-137813431-C-T
gnomAD v4:
9-137813431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813431C>T , CM000671.2:g.137813431C>T | GRCh38 |
| NC_000009.11:g.140707883C>T , CM000671.1:g.140707883C>T | GRCh37 |
| NC_000009.10:g.139827704C>T | NCBI36 |
| NG_011776.1:g.199440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3081C>T MANE Select | ENSP00000417980.1:p.Asn1027= | |
| ENST00000637161.1:c.2988C>T | ENSP00000490328.1:p.Asn996= | |
| ENST00000637261.1:c.3121C>T | ENSP00000490815.1:n.3121C>T | |
| ENST00000637891.1:c.975C>T | ENSP00000490907.1:p.Asn325= | |
| ENST00000460843.5:c.3081C>T | ENSP00000417980.1:p.Asn1027= | |
| ENST00000462942.3:c.1938C>T | ENSP00000436107.1:p.Asn646= | |
| ENST00000486164.5:c.768C>T | ||
| ENST00000488242.2:n.607C>T | ||
| NM_024757.4:c.3081C>T | NP_079033.4:p.Asn1027= | |
| XM_005266105.3:c.3072C>T | XP_005266162.1:p.Asn1024= | |
| XM_005266110.1:c.2988C>T | XP_005266167.1:p.Asn996= | |
| XM_006717288.2:c.3063C>T | XP_006717351.1:p.Asn1021= | |
| XM_011519021.1:c.3090C>T | XP_011517323.1:p.Asn1030= | |
| XM_011519022.1:c.3087C>T | XP_011517324.1:p.Asn1029= | |
| XM_011519023.1:c.3069C>T | XP_011517325.1:p.Asn1023= | |
| XM_011519024.1:c.3012C>T | XP_011517326.1:p.Asn1004= | |
| XM_011519025.1:c.2988C>T | XP_011517327.1:p.Asn996= | |
| XM_011519026.1:c.2946C>T | XP_011517328.1:p.Asn982= | |
| XM_011519029.1:c.1512C>T | XP_011517331.1:p.Asn504= | |
| XM_011519030.1:c.864C>T | XP_011517332.1:p.Asn288= | |
| XM_011519031.1:c.651C>T | XP_011517333.1:p.Asn217= | |
| XM_011519032.1:c.651C>T | XP_011517334.1:p.Asn217= | |
| XM_011519033.1:c.2925C>T | XP_011517335.1:p.Asn975= | |
| NM_001354263.1:c.3060C>T | NP_001341192.1:p.Asn1020= | |
| XM_005266105.5:c.3072C>T | XP_005266162.1:p.Asn1024= | |
| XM_011519021.3:c.3090C>T | XP_011517323.1:p.Asn1030= | |
| XM_011519022.3:c.3087C>T | XP_011517324.1:p.Asn1029= | |
| XM_011519023.3:c.3069C>T | XP_011517325.1:p.Asn1023= | |
| XM_011519029.3:c.1512C>T | XP_011517331.1:p.Asn504= | |
| XM_011519030.3:c.864C>T | XP_011517332.1:p.Asn288= | |
| XM_017015134.1:c.3066C>T | XP_016870623.1:p.Asn1022= | |
| XM_017015136.2:c.2982C>T | XP_016870625.1:p.Asn994= | |
| XM_017015137.1:c.2967C>T | XP_016870626.1:p.Asn989= | |
| XM_017015138.1:c.2967C>T | XP_016870627.1:p.Asn989= | |
| XM_024447674.1:c.2910C>T | XP_024303442.1:p.Asn970= | |
| XM_024447675.1:c.2844C>T | XP_024303443.1:p.Asn948= | |
| XM_024447676.1:c.2205C>T | XP_024303444.1:p.Asn735= | |
| XM_024447677.1:c.2205C>T | XP_024303445.1:p.Asn735= | |
| XM_024447680.1:c.2823C>T | XP_024303448.1:p.Asn941= | |
| NM_024757.5:c.3081C>T MANE Select | NP_079033.4:p.Asn1027= | |
| NM_001354263.2:c.3060C>T | NP_001341192.1:p.Asn1020= |