Linked Data
ClinVar Variation Id:
1410229
ClinVar RCV Id:
RCV001916344
dbSNP Id:
rs2109277876
gnomAD v4:
3-193667251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193667251G>A , CM000665.2:g.193667251G>A | GRCh38 |
| NC_000003.11:g.193385040G>A , CM000665.1:g.193385040G>A | GRCh37 |
| NC_000003.10:g.194867734G>A | NCBI36 |
| NG_011605.1:g.79108G>A , LRG_337:g.79108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2954G>A MANE Select | ENSP00000355324.2:p.Gly985Asp | |
| ENST00000361828.7:c.2789G>A | ENSP00000354429.3:p.Gly930Asp | |
| ENST00000361908.8:c.2900G>A | ENSP00000354681.3:p.Gly967Asp | |
| ENST00000392436.7:c.2789G>A | ENSP00000376231.3:p.Gly930Asp | |
| ENST00000392437.6:c.2843G>A | ENSP00000376232.2:p.Gly948Asp | |
| ENST00000642289.1:c.2728G>A | ||
| ENST00000642445.1:c.2789G>A | ENSP00000495535.1:p.Gly930Asp | |
| ENST00000642593.1:c.*1014G>A | ENSP00000494273.1:n.*1014G>A | |
| ENST00000643329.1:c.2471G>A | ENSP00000493673.1:p.Gly824Asp | |
| ENST00000643737.1:c.*2870G>A | ENSP00000494210.1:n.*2870G>A | |
| ENST00000644595.1:c.2789G>A | ENSP00000494121.1:p.Gly930Asp | |
| ENST00000644629.1:c.2376G>A | ||
| ENST00000644841.1:c.*1273G>A | ENSP00000493988.1:n.*1273G>A | |
| ENST00000644959.1:c.2783G>A | ||
| ENST00000645553.1:c.2804G>A | ENSP00000494725.1:p.Gly935Asp | |
| ENST00000646085.1:c.*2267G>A | ENSP00000494509.1:n.*2267G>A | |
| ENST00000646277.1:c.*1390G>A | ENSP00000495289.1:n.*1390G>A | |
| ENST00000646544.1:c.1777G>A | ||
| ENST00000646699.1:c.2728G>A | ||
| ENST00000646793.1:c.2681G>A | ENSP00000494512.1:p.Gly894Asp | |
| ENST00000361150.6:c.2792G>A | ENSP00000354781.2:p.Gly931Asp | |
| ENST00000361510.6:c.2954G>A | ENSP00000355324.2:p.Gly985Asp | |
| ENST00000361715.6:c.2846G>A | ENSP00000355311.2:p.Gly949Asp | |
| ENST00000361828.6:c.2843G>A | ENSP00000354429.2:p.Gly948Asp | |
| ENST00000361908.7:c.2900G>A | ENSP00000354681.3:p.Gly967Asp | |
| ENST00000392438.7:c.2789G>A | ENSP00000376233.3:p.Gly930Asp | |
| ENST00000429164.1:c.76G>A | ||
| ENST00000445863.1:c.365G>A | ENSP00000398358.1:p.Gly122Asp | |
| NM_015560.2:c.2789G>A , LRG_337t1:c.2789G>A | NP_056375.2:p.Gly930Asp | |
| NM_130831.2:c.2681G>A | NP_570844.1:p.Gly894Asp | |
| NM_130832.2:c.2735G>A | NP_570845.1:p.Gly912Asp | |
| NM_130833.2:c.2792G>A | NP_570846.1:p.Gly931Asp | |
| NM_130834.2:c.2843G>A | NP_570847.2:p.Gly948Asp | |
| NM_130835.2:c.2846G>A | NP_570848.1:p.Gly949Asp | |
| NM_130836.2:c.2900G>A | NP_570849.2:p.Gly967Asp | |
| NM_130837.2:c.2954G>A , LRG_337t2:c.2954G>A | NP_570850.2:p.Gly985Asp | |
| XM_011512863.1:c.2954G>A | XP_011511165.1:p.Gly985Asp | |
| XM_011512864.1:c.2900G>A | XP_011511166.1:p.Gly967Asp | |
| XM_011512865.1:c.2843G>A | XP_011511167.1:p.Gly948Asp | |
| XM_011512866.1:c.2792G>A | XP_011511168.1:p.Gly931Asp | |
| XM_011512867.1:c.2789G>A | XP_011511169.1:p.Gly930Asp | |
| XM_011512868.1:c.2681G>A | XP_011511170.1:p.Gly894Asp | |
| XR_924835.1:n.582+1669C>T | ||
| NM_001354663.1:c.2420G>A | NP_001341592.1:p.Gly807Asp | |
| NM_001354664.1:c.2417G>A | NP_001341593.1:p.Gly806Asp | |
| XR_001740158.2:n.3208G>A | ||
| XR_001740159.2:n.3043G>A | ||
| XR_001741072.1:n.600+1669C>T | ||
| XR_001741074.1:n.475+3557C>T | ||
| XR_924835.2:n.600+1669C>T | ||
| NM_001354663.2:c.2420G>A | NP_001341592.1:p.Gly807Asp | |
| NM_001354664.2:c.2417G>A | NP_001341593.1:p.Gly806Asp | |
| NM_130831.3:c.2681G>A | NP_570844.1:p.Gly894Asp | |
| NM_130832.3:c.2735G>A | NP_570845.1:p.Gly912Asp | |
| NM_130834.3:c.2843G>A | NP_570847.2:p.Gly948Asp | |
| NM_130836.3:c.2900G>A | NP_570849.2:p.Gly967Asp | |
| NM_015560.3:c.2789G>A | NP_056375.2:p.Gly930Asp | |
| NM_130833.3:c.2792G>A | NP_570846.1:p.Gly931Asp | |
| NM_130835.3:c.2846G>A | NP_570848.1:p.Gly949Asp | |
| NM_130837.3:c.2954G>A MANE Select | NP_570850.2:p.Gly985Asp |